Variant
GLA C52S
NM_000169.3(GLA):c.155G>C (p.Cys52Ser)
- p.Cys52Ser
- p.C52S
- rs869312256
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 8 September 2026
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.17-8666dff2Facts last changed 17 October 2026
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/gla/variants/c52s.json"
page <- fromJSON(url)
page$variant$nameSummary
C52S is a missense variant in GLA: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Fabry Disease (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Fabry DiseaseClinVar VCV004087280 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 3 submissions | 8 September 2026 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
ACMG/AMP criteria
The ACMG/AMP criteria C52S meets, from its predicted effect in GLA, gnomAD and ClinVar.
| Criterion | Strength | Rests on |
|---|---|---|
| PP5A reputable source reports it as pathogenic | Supporting | ClinVar: Pathogenic (criteria provided, multiple submitters, no conflicts) |
On these criteria alone: uncertain significance.
Assessed automatically, without functional, computational or family evidence. Not a clinical classification.
Where it lies in GLA
C52S lies in exon 1 of the 7 in GLA's MANE Select transcript, NM_000169.3.
Molecular details
| Gene | GLA |
|---|---|
| Transcript | NM_000169.3MANE Select |
| Coding DNA change (HGVS c.) | c.155G>C |
| Protein change (HGVS p.) | p.Cys52Serp.C52S |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chrX:101407749 C>G |
| Position (GRCh37) | chrX:100662737 C>G |
| dbSNP ID | rs869312256 (opens in a new tab) |
| ClinVar Variation ID | VCV004087280 (opens in a new tab) |
| ClinVar Allele ID | 224118 |
| ClinVar name | NM_000169.3(GLA):c.155G>C (p.Cys52Ser) |
GLA C52S in other databases
Reports that look at this variant (2)
These Genome Test condition reports include C52S among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Fabry Disease | Fabry Disease | X-linked recessive |
| Lysosomal Storage Disease | Lysosomal storage disease (other and unspecified types) |
Other variants in GLA
- A15EPathogenic2 stars out of 4
- A20DPathogenic/likely pathogenic2 stars out of 4
- A20Gfs*2Pathogenic2 stars out of 4
- A29Gfs*2Pathogenic2 stars out of 4
- A31VLikely pathogenic2 stars out of 4
- A37PPathogenic/likely pathogenic2 stars out of 4
- A37TLikely pathogenic2 stars out of 4
- A97VPathogenic/likely pathogenic2 stars out of 4
- A121PLikely pathogenic2 stars out of 4
- A135VPathogenic2 stars out of 4
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 2026-10-17-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-17).
- 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 2026.10.17-8666dff2 of 17 October 2026.
Cite this page
Dante Labs. (17 October 2026). GLA C52S (c.155G>C, rs869312256) (Version 2026.10.17-8666dff2). Retrieved 17 October 2026, from https://dantelabs.com/genes/gla/variants/c52s
Dante Labs. GLA C52S (c.155G>C, rs869312256) [Internet]. Version 2026.10.17-8666dff2. 17 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gla/variants/c52s
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