ASPA p.Phe205del
c.613_615del · VCV4062293
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Canavan 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 11 | GERP 1.7, phastCons 1 |
Variant & gene context
- Gene
- ASPA
- Protein
- p.Phe205del
- Coding
- c.613_615del
- MANE Select
- NM_000049
- Type
- Deletion
- Location
- chr17:3489320 (GRCh38)
- Gene constraint
- LOEUF 1.098 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 96.14 · 8 PDB
- Residue 205
- an α-helix
Disease context
Canavan disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Canavan disease (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood, Infancy, Neonatal
Similar variants
- ASPA p.Phe205_His207del Uncertain significance same residue
- ASPA p.Asp204fs Pathogenic/Likely pathogenic ★★ same condition
- ASPA p.Cys152fs Pathogenic/Likely pathogenic ★★ same condition
- ASPA p.Cys276fs Pathogenic/Likely pathogenic ★★ same condition
- ASPA p.Gln12fs Pathogenic ★★ same condition
- ASPA p.Glu129fs Pathogenic ★★ same condition
- ASPA p.Ile11fs Pathogenic/Likely pathogenic ★★ same condition
- ASPA p.Lys103fs Likely 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/aspa-p-phe205del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown