GAA p.Val718fs
c.2153_2156delinsACGCCG · VCV4876299
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
glycogen storage disease II
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 15 of 20 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.92 | GERP -3.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- GAA
- Protein
- p.Val718fs
- Coding
- c.2153_2156delinsACGCCG
- MANE Select
- NM_000152
- Type
- Indel
- Location
- chr17:80113330 (GRCh38)
- Gene constraint
- LOEUF 1.008 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.32 · 19 PDB
- Residue 718
- a UniProt-annotated variant site (in); an α-helix
Disease context
glycogen storage disease II — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Glycogen storage disease due to acid maltase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 1 000 000 (Europe)
Similar variants
- GAA p.Val718Ile Likely benign ★★★ same residue
- GAA p.Val718Leu Uncertain significance ★★ ⚠ same residue
- GAA p.Val718= Conflicting classifications of pathogenicity ★ same residue
- GAA p.Ala761fs Pathogenic ★★★ same condition
- GAA p.Asn535fs Likely pathogenic ★★★ same condition
- GAA p.Ser529Val Likely pathogenic ★★★ same condition
- GAA p.Trp376fs Pathogenic ★★★ same condition
- GAA p.Tyr256fs 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/gaa-p-val718fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown