OCRL p.Gln408fs
c.1224del · VCV3632802
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
oculocerebrorenal syndrome
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 | predicted | premature termination codon in exon 12 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.8 | GERP 1.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- OCRL
- Protein
- p.Gln408fs
- Coding
- c.1224del
- MANE Select
- NM_000276
- Type
- Deletion
- Location
- chrX:129562766 (GRCh38)
- Structure
- AlphaFold pLDDT 82.91 · 5 PDB
- Residue 408
- the 5-ppase domain
Similar variants
- OCRL p.Gln408Ter Pathogenic ★ same residue
- OCRL p.Glu585del Pathogenic/Likely pathogenic ★★ same condition
- OCRL c.1057-2_1057-1del Likely pathogenic ★ same condition
- OCRL c.1244+1338_1366del Likely pathogenic ★ same condition
- OCRL c.238_238+1del Likely pathogenic ★ same condition
- OCRL p.Cys771fs Pathogenic ★ same condition
- OCRL p.Glu193fs Likely pathogenic ★ same condition
- OCRL p.Glu220fs 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/ocrl-p-gln408fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown