GLA p.Ser345fs
c.1031dup · VCV4087042
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Fabry disease
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (7 of 7) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.66 | GERP 0.064, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- GLA
- Protein
- p.Ser345fs
- Coding
- c.1031dup
- MANE Select
- NM_000169
- Type
- Duplication
- Location
- chrX:101398067 (GRCh38)
- Structure
- AlphaFold pLDDT 94.45 · 31 PDB
- Residue 345
- an α-helix
Disease context
Fabry disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Fabry disease (Orphanet):
- Inheritance
- X-linked dominant, X-linked recessive
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- 1-9 / 1 000 000 (Worldwide)
Similar variants
- GLA p.Ser345_Met353del Likely pathogenic ★ same residue
- GLA p.Ser345Pro Pathogenic ★ ⚠ same residue
- GLA p.Ser345Ter Pathogenic ★ same residue
- GLA c.801+2dup Pathogenic ★★ same condition
- GLA p.Ala348fs Pathogenic ★★ same condition
- GLA p.Asn139fs Pathogenic/Likely pathogenic ★★ same condition
- GLA p.Asn355fs Pathogenic/Likely pathogenic ★★ same condition
- GLA p.Asp93Ter Pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/gla-p-ser345fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown