Is CDH23 c.(?_3716 pathogenic?

CDH23 c.(?3716 is classified Pathogenic in CDH23 (ClinVar, Single submitter, 1 submitter; last evaluated 2013-09-25). Associated with Rare genetic deafness.

What condition is associated with CDH23 c.(?_3716?

CDH23 c.(?_3716 is associated with Rare genetic deafness (ClinVar).

CDH23 c.(?_3716

VCV179348

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

Rare genetic deafness

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type.

Variant & gene context

Gene: CDH23
Coding: c.(?_3716
MANE Select: NM_022124
Type: Deletion
Location: chr10:None (GRCh38)

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

Disease context

Rare genetic deafness — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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-c-3716 (accessed [today's date]).

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