--- title: "SGCA G68E (c.203G>A, rs2144494148) | Dante Labs" description: "ClinVar classifies SGCA G68E as Likely pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/sgca/variants/g68e" --- 1. [Genes](https://dantelabs.com/genes) 2. [SGCA](https://dantelabs.com/genes/sgca) 3. SGCA G68E Variant # SGCA G68E NM_000023.4(SGCA):c.203G>A (p.Gly68Glu) Also known as - p.Gly68Glu - p.G68E - rs2144494148 * ClinVar classification Likely pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 29 April 2026 * Expert panel ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary G68E is a missense variant in SGCA: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ------------------------------------------------------------------------------------------------------------------------------------------------------ | ----------------- | ----------------------------------------- | ------------ | -------------- | | autosomal recessive limb-girdle muscular dystrophy[ClinVar VCV001052453 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/1052453/) | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 29 April 2026 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in SGCA G68E lies in exon 3 of the 10 in SGCA's MANE Select transcript, NM_000023.4. [SGCA variants in exon 3 →](https://dantelabs.com/genes/sgca/variants?exon=3) [SGCA's gene diagram →](https://dantelabs.com/genes/sgca#gene-structure) ## Molecular details | Gene | [SGCA](https://dantelabs.com/genes/sgca) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000023.4 MANE Select | | Coding DNA change (HGVS c.) | c.203G>A | | Protein change (HGVS p.) | p.Gly68Glu p.G68E | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr17:50167627 G>A | | Position (GRCh37) | chr17:48244988 G>A | | dbSNP ID | [rs2144494148 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs2144494148) | | ClinVar Variation ID | [VCV001052453 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/1052453/) | | ClinVar Allele ID | 1050385 | | ClinGen Allele Registry ID | [CA400177350 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA400177350) | | ClinVar name | NM_000023.4(SGCA):c.203G>A (p.Gly68Glu) | ## SGCA G68E in other databases - [ClinVar VCV001052453 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/1052453/) - [dbSNP rs2144494148 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs2144494148) - [ClinGen Allele Registry CA400177350 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA400177350) - [gnomAD 17-50167627-G-A (opens in a new tab)](https://gnomad.broadinstitute.org/variant/17-50167627-G-A?dataset=gnomad_r4) - [Ensembl rs2144494148 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs2144494148) ## Reports that look at this variant (1) These Genome Test condition reports include G68E among the variants they look at. | Report | Conditions | Inheritance | | ------------------------------------------------------------------------------------------------- | ------------------------------ | ----------- | | [Limb-Girdle Muscular Dystrophy](https://dantelabs.com/conditions/limb-girdle-muscular-dystrophy) | Limb-girdle Muscular Dystrophy | | ## Other variants in SGCA - [A107V Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/sgca/variants/a107v) - [c.37+6T>C Pathogenic 3 stars out of 4](https://dantelabs.com/genes/sgca/variants/c-37plus6t-c) - [c.585-1G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/sgca/variants/c-585-1g-a) - [c.957-11C>G Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/sgca/variants/c-957-11c-g) - [D234N Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/sgca/variants/d234n) - [G168R Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/sgca/variants/g168r) - [I103V Pathogenic 3 stars out of 4](https://dantelabs.com/genes/sgca/variants/i103v) - [L31P Pathogenic 3 stars out of 4](https://dantelabs.com/genes/sgca/variants/l31p) - [L66H Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/sgca/variants/l66h) - [L89F Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/sgca/variants/l89f) [All SGCA variants](https://dantelabs.com/genes/sgca/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 2026-10-12), 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 2026-10-16-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16). - 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 2026.10.16-c6eea6bf of 16 October 2026. ## Cite this page APA > Dante Labs. (16 October 2026). SGCA G68E (c.203G>A, rs2144494148) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/sgca/variants/g68e Vancouver > Dante Labs. SGCA G68E (c.203G>A, rs2144494148) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/sgca/variants/g68e Download citation [RIS](https://dantelabs.com/genes/sgca/variants/g68e/cite.ris) [BibTeX](https://dantelabs.com/genes/sgca/variants/g68e/cite.bib) [CSL-JSON](https://dantelabs.com/genes/sgca/variants/g68e/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)