Is CRB1 p.Pro777fs (c.2330_2336del) pathogenic?

CRB1 p.Pro777fs (c.23302336del) is classified Likely pathogenic in CRB1 (ClinVar, Single submitter, 2 submitters). Absent from gnomAD.

How common is CRB1 p.Pro777fs (c.2330_2336del) in the general population?

CRB1 p.Pro777fs (c.2330_2336del) is absent from gnomAD (gnomAD).

CRB1 p.Pro777fs

c.2330_2336del · rs786205610 · VCV191264

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 7 of 12
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.4	GERP 1.6, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: CRB1
Protein: p.Pro777fs
Coding: c.2330_2336del
MANE Select: NM_201253
dbSNP: rs786205610
Type: Deletion
Location: chr1:197427651 (GRCh38)
Gene constraint: LOEUF 0.776 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 75.19 · 1 PDB
Residue 777: a UniProt-annotated variant site (in lca8); the laminin g-like 2 domain

Full CRB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CRB1 p.Pro777Leu Uncertain significance ★★ ⚠ same residue
CRB1 p.Pro777Ala Uncertain significance ★ ⚠ same residue
CRB1 p.Pro777Ser Uncertain significance ★ same residue
CRB1 c.652+3_652+6del Pathogenic/Likely pathogenic ★★ same type
CRB1 p.Ala1374fs Pathogenic ★★ same type
CRB1 p.Asn7fs Pathogenic/Likely pathogenic ★★ same type
CRB1 p.Asp1299fs Pathogenic/Likely pathogenic ★★ same type
CRB1 p.Asp47fs Pathogenic ★★ same type

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-pro777fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown