Is CDH23 p.Val1207fs (c.3619del) pathogenic?

CDH23 p.Val1207fs (c.3619del) is classified Likely pathogenic in CDH23 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-06). Associated with autosomal recessive nonsyndromic hearing loss 12.

What condition is associated with CDH23 p.Val1207fs (c.3619del)?

CDH23 p.Val1207fs (c.3619del) is associated with autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D, pituitary adenoma 5, multiple types (ClinVar).

CDH23 p.Val1207fs

c.3619del · VCV3596854

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

autosomal recessive nonsyndromic hearing loss 12

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -20	GERP -4.4

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

Variant & gene context

Gene: CDH23
Protein: p.Val1207fs
Coding: c.3619del
MANE Select: NM_001164375 · reported on NM_022124
Type: Deletion
Location: chr10:71730508 (GRCh38)

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

Disease context

autosomal recessive nonsyndromic hearing loss 12 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Usher syndrome type 1D pituitary adenoma 5, multiple types

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-val1207fs (accessed [today's date]).

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