--- title: "GLA A121P (c.361G>C, rs782197638) | Dante Labs" description: "ClinVar classifies GLA A121P as Likely pathogenic (criteria provided, multiple submitters, no conflicts). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/gla/variants/a121p" --- 1. [Genes](https://dantelabs.com/genes) 2. [GLA](https://dantelabs.com/genes/gla) 3. GLA A121P Variant # GLA A121P NM_000169.3(GLA):c.361G>C (p.Ala121Pro) Also known as - p.Ala121Pro - p.A121P - rs782197638 * ClinVar classification Likely pathogenic * Review status 2 stars out of 4 criteria provided, multiple submitters, no conflicts * Last evaluated 8 September 2026 Data current to ClinVar release 2026-10-19 · Dante Labs data release 2026.10.21-311f020e Facts last changed 21 October 2026 ## Summary A121P is a missense variant in GLA: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for Fabry Disease (criteria provided, multiple submitters, no conflicts). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ------------------------------------------------------------------------------------------------------------------------------------------------------------------- | ----------------- | --------------------------------------------------------------------- | ------------- | ---------------- | | [Fabry Disease](https://dantelabs.com/conditions/fabry-disease) [ClinVar VCV000840073 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/840073/) | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | 2 submissions | 8 September 2026 | Classifications as ClinVar records them in release 2026-10-19. ClinVar updates them as evidence is reviewed. ## ACMG/AMP criteria The ACMG/AMP criteria A121P meets, from its predicted effect in GLA, gnomAD and ClinVar. | Criterion | Strength | Points | Rests on | | ---------------------------------------------------- | ---------- | ----------- | --------------------------------------------------------------------------------- | | PM1 In a mutational hotspot without benign variation | Supporting | +1 | 8 pathogenic changes in ClinVar between amino acids 116 and 126, none benign | | PM2 Absent or very rare in population databases | Supporting | +1 | Not seen in gnomAD exomes, gnomAD genomes | | PP5 A reputable source reports it as pathogenic | Supporting | Not counted | ClinVar: Likely pathogenic (criteria provided, multiple submitters, no conflicts) | On these criteria alone: +2 points, uncertain significance. Assessed automatically, without functional, computational or family evidence. Not a clinical classification. ## Population frequency How often A121P is seen among the people whose exomes and genomes gnomAD 4.1 brings together. | Dataset | Allele frequency | Allele count | Homozygotes | Commonest in | | -------------- | ---------------- | ------------ | ----------- | ------------ | | gnomAD exomes | Not seen | 0 of 0 | 0 | | | gnomAD genomes | Not seen | 0 of 0 | 0 | | Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result. [A121P in the gnomAD browser (opens in a new tab)](https://gnomad.broadinstitute.org/variant/X-101403819-C-G?dataset=gnomad_r4) ## Where it lies in GLA A121P lies in exon 2 of the 7 in GLA's MANE Select transcript, NM_000169.3. [GLA variants in exon 2 →](https://dantelabs.com/genes/gla/variants?exon=2) [GLA's gene diagram →](https://dantelabs.com/genes/gla#gene-structure) ## Molecular details | Gene | [GLA](https://dantelabs.com/genes/gla) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000169.3 MANE Select | | Coding DNA change (HGVS c.) | c.361G>C | | Protein change (HGVS p.) | p.Ala121Pro p.A121P | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chrX:101403819 C>G | | Position (GRCh37) | chrX:100658807 C>G | | dbSNP ID | [rs782197638 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs782197638) | | ClinVar Variation ID | [VCV000840073 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/840073/) | | ClinVar Allele ID | 849525 | | ClinGen Allele Registry ID | [CA413932808 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA413932808) | | ClinVar name | NM_000169.3(GLA):c.361G>C (p.Ala121Pro) | ## GLA A121P in other databases - [ClinVar VCV000840073 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/840073/) - [dbSNP rs782197638 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs782197638) - [ClinGen Allele Registry CA413932808 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA413932808) - [gnomAD X-101403819-C-G (opens in a new tab)](https://gnomad.broadinstitute.org/variant/X-101403819-C-G?dataset=gnomad_r4) - [Ensembl rs782197638 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs782197638) ## Reports that look at this variant (2) These Genome Test condition reports include A121P among the variants they look at. | Report | Conditions | Inheritance | | --------------------------------------------------------------------------------------- | ------------------------------------------------------- | ------------------ | | [Fabry Disease](https://dantelabs.com/conditions/fabry-disease) | Fabry Disease | X-linked recessive | | [Lysosomal Storage Disease](https://dantelabs.com/conditions/lysosomal-storage-disease) | Lysosomal storage disease (other and unspecified types) | | ## Other variants in GLA - [A15E Pathogenic 2 stars out of 4](https://dantelabs.com/genes/gla/variants/a15e) - [A20D Pathogenic/likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/gla/variants/a20d) - [A20Gfs\*2 Pathogenic 2 stars out of 4](https://dantelabs.com/genes/gla/variants/a20gfs2) - [A29Gfs\*2 Pathogenic 2 stars out of 4](https://dantelabs.com/genes/gla/variants/a29gfs2) - [A31V Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/gla/variants/a31v) - [A37P Pathogenic/likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/gla/variants/a37p) - [A37T Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/gla/variants/a37t) - [A97V Pathogenic/likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/gla/variants/a97v) - [A135V Pathogenic 2 stars out of 4](https://dantelabs.com/genes/gla/variants/a135v) - [A143P Pathogenic/likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/gla/variants/a143p) [All GLA variants](https://dantelabs.com/genes/gla/variants) ## Limitations This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant. Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports. Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements. If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor. ## Sources & credits - Classifications from ClinVar (release 2026-10-19), National Center for Biotechnology Information. - Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0. - Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16). - Allele identifiers from the ClinGen Allele Registry (release 2026-10-21-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-21). - Difficult regions from the Genome in a Bottle Consortium (release v3.6). - Transcripts from MANE (release v1.5), NCBI and EMBL-EBI. - Predicted consequences from mehari (release 0.11.0), with transcript models from cdot. - Built from Dante Labs data release 2026.10.21-311f020e of 21 October 2026. ## Cite this page APA > Dante Labs. (21 October 2026). GLA A121P (c.361G>C, rs782197638) (Version 2026.10.21-311f020e). Retrieved 21 October 2026, from https\://dantelabs.com/genes/gla/variants/a121p Vancouver > Dante Labs. GLA A121P (c.361G>C, rs782197638) \[Internet]. Version 2026.10.21-311f020e. 21 October 2026 \[cited 21 October 2026]. Available from: https\://dantelabs.com/genes/gla/variants/a121p Download citation [RIS](https://dantelabs.com/genes/gla/variants/a121p/cite.ris) [BibTeX](https://dantelabs.com/genes/gla/variants/a121p/cite.bib) [CSL-JSON](https://dantelabs.com/genes/gla/variants/a121p/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)