AIPL1 p.Cys207fs
c.618_619dup · VCV4087767
Pathogenic
Expert panel
Classification
Pathogenic
ClinVar
Review
Expert panel ★★★☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
AIPL1-related retinopathy
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 4 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP 2.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AIPL1
- Protein
- p.Cys207fs
- Coding
- c.618_619dup
- MANE Select
- NM_014336
- Type
- Duplication
- Location
- chr17:6426903 (GRCh38)
- Gene constraint
- LOEUF 1.01 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.42 · 6 PDB
- Residue 207
- an α-helix
Similar variants
- AIPL1 p.Val12fs Likely pathogenic ★★★ same condition
- AIPL1 p.Ala352_Pro355dup Uncertain significance ★★★ same condition
- AIPL1 p.Cys207Ter Pathogenic ★ same residue
- AIPL1 c.276+1G>A Pathogenic ★★★ same condition
- AIPL1 c.276+2T>C Pathogenic ★★★ same condition
- AIPL1 c.277-2A>G Pathogenic ★★★ same condition
- AIPL1 p.Ala197Pro Pathogenic ★★★ same condition
- AIPL1 p.Arg270His 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/aipl1-p-cys207fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown