GLA p.Tyr152del
c.451TAC[1] · rs2147477618 · VCV1310420
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Fabry disease
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.8 | GERP 3.4, phastCons 1 |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- GLA
- Protein
- p.Tyr152del
- Coding
- c.451TAC[1]
- MANE Select
- NM_000169
- dbSNP
- rs2147477618
- Type
- Microsatellite
- Location
- chrX:101401723 (GRCh38)
- Structure
- AlphaFold pLDDT 94.45 · 31 PDB
- Residue 152
- a disulfide bond; 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.Tyr152_Asp153insTyr Uncertain significance ★ same residue
- GLA p.Tyr152Asp Likely pathogenic ★★ same residue
- GLA p.Tyr152Ter Pathogenic ★★ same residue
- GLA p.Tyr152Phe Uncertain significance ★★ ⚠ same residue
- GLA p.Tyr152= Likely benign ★★ same residue
- GLA p.Tyr152Cys Likely pathogenic ★ ⚠ same residue
- GLA p.Tyr152His Likely pathogenic ★ ⚠ same residue
- GLA p.Tyr152Ser Likely pathogenic ★ same residue
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-tyr152del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown