CDH23 p.Ala2146fs
c.6436del · VCV4907908
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
CDH23-related disorder
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 48 of 70 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.2 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CDH23
- Protein
- p.Ala2146fs
- Coding
- c.6436del
- MANE Select
- NM_022124
- Type
- Deletion
- Location
- chr10:71793363 (GRCh38)
- Gene constraint
- LOEUF 0.685 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Residue 2146
- the cadherin 20 domain
Disease context
CDH23-related disorder
Similar variants
- CDH23 p.Asn1889fs Likely pathogenic ★★ same condition
- CDH23 p.Ile2132fs Pathogenic ★★ same condition
- CDH23 p.Ile3210fs Pathogenic/Likely pathogenic ★★ same condition
- CDH23 p.Phe2577fs Pathogenic/Likely pathogenic ★★ same condition
- CDH23 p.Phe995fs Pathogenic/Likely pathogenic ★★ same condition
- CDH23 p.Pro2323fs Pathogenic/Likely pathogenic ★★ same condition
- CDH23 p.Pro650fs Pathogenic/Likely pathogenic ★★ same condition
- CDH23 p.Thr1587fs 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-ala2146fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown