CRB1 p.Asp730=
c.2190T>C · rs751650324 · VCV2949996
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
2
retinitis pigmentosa 12
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.19 | GERP -3.1, phastCons 0.005 |
| Overall | ||
| CADD | 1.94 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CRB1
- Protein
- p.Asp730=
- Coding
- c.2190T>C
- MANE Select
- NM_201253
- dbSNP
- rs751650324
- Type
- single nucleotide variant
- Location
- chr1:197427515 (GRCh38)
- Gene constraint
- LOEUF 0.776 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.19 · 1 PDB
- Residue 730
- a UniProt-annotated variant site (in lca8); the laminin g-like 2 domain
Disease context
retinitis pigmentosa 12 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: Leber congenital amaurosis 8
For Retinitis pigmentosa (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- 1-5 / 10 000 (Europe)
Similar variants
- CRB1 c.1172-2A>G Likely pathogenic ★★ same condition
- CRB1 c.2128+1G>C Pathogenic/Likely pathogenic ★★ same condition
- CRB1 c.2129-1G>A Pathogenic/Likely pathogenic ★★ same condition
- CRB1 c.2129-1G>C Pathogenic ★★ same condition
- CRB1 c.2129-2A>G Pathogenic ★★ same condition
- CRB1 c.2676+1G>A Likely pathogenic ★★ same condition
- CRB1 c.2842+5G>A Pathogenic/Likely pathogenic ★★ same condition
- CRB1 c.2843-1G>T 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/crb1-p-asp730 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown