Variant
GLA A288Vfs*29
NM_000169.3(GLA):c.863del (p.Ala288ValfsTer29)
- p.Ala288ValfsTer29
- p.A288Vfs*29
- rs1569303030
- ClinVar classification
- Pathogenic/likely pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 2 August 2021
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
A288Vfs*29 is a frameshift variant in GLA: it adds or removes DNA letters in a way that shifts how the rest of the gene's code is read. ClinVar classifies it as pathogenic or likely pathogenic for Fabry Disease (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Fabry DiseaseClinVar VCV000633246 (opens in a new tab) | Pathogenic/likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 2 August 2021 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in GLA
A288Vfs*29 lies in exon 6 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.863del |
| Protein change (HGVS p.) | p.Ala288ValfsTer29p.A288Vfs*29 |
| Predicted consequence | Frameshiftframeshift_variant (opens in a new tab)frameshift_truncation (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chrX:101398505 AG>A |
| Position (GRCh37) | chrX:100653493 AG>A |
| dbSNP ID | rs1569303030 (opens in a new tab) |
| ClinVar Variation ID | VCV000633246 (opens in a new tab) |
| ClinVar Allele ID | 621664 |
| ClinGen Allele Registry ID | CA913190978 (opens in a new tab) |
| ClinVar name | NM_000169.3(GLA):c.863del (p.Ala288fs) |
GLA A288Vfs*29 in other databases
Reports that look at this variant (2)
These Genome Test condition reports include A288Vfs*29 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 2026-10-16-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
Dante Labs. (16 October 2026). GLA A288Vfs*29 (c.863del, rs1569303030) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/gla/variants/a288vfs29
Dante Labs. GLA A288Vfs*29 (c.863del, rs1569303030) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gla/variants/a288vfs29
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