Is CDH23 p.Ile2763fs (c.8287_8290del) pathogenic?

CDH23 p.Ile2763fs (c.82878290del) is classified Likely pathogenic in CDH23 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-20). Associated with Usher syndrome type 1D.

What condition is associated with CDH23 p.Ile2763fs (c.8287_8290del)?

CDH23 p.Ile2763fs (c.8287_8290del) is associated with Usher syndrome type 1D, autosomal recessive nonsyndromic hearing loss 12, pituitary adenoma 5, multiple types (ClinVar).

CDH23 p.Ile2763fs

c.8287_8290del · VCV3597106

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Usher syndrome type 1D

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 58 of 70
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.9	GERP 1.7, phastCons 1

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

Variant & gene context

Gene: CDH23
Protein: p.Ile2763fs
Coding: c.8287_8290del
MANE Select: NM_022124
Type: Deletion
Location: chr10:71807383 (GRCh38)
Gene constraint: LOEUF 0.685 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Residue 2763: the cadherin 26 domain

Full CDH23 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Usher syndrome type 1D — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: autosomal recessive nonsyndromic hearing loss 12 pituitary adenoma 5, multiple types

Similar variants

CDH23 c.1143_1176del Pathogenic/Likely pathogenic ★★ same condition
CDH23 c.9280_9286del Pathogenic/Likely pathogenic ★★ same condition
CDH23 p.Ala2232_Val2233insTer Pathogenic/Likely pathogenic ★★ same condition
CDH23 p.Ala2685fs Pathogenic ★★ same condition
CDH23 p.Arg2115fs Pathogenic/Likely pathogenic ★★ same condition
CDH23 p.Asn1889fs Likely pathogenic ★★ same condition
CDH23 p.Asp2716fs Likely pathogenic ★★ same condition
CDH23 p.Ile2132fs 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/cdh23-p-ile2763fs (accessed [today's date]).

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