CDH23 p.Arg95fs
c.284_285insT · VCV4852010
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 4 of 70 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CDH23
- Protein
- p.Arg95fs
- Coding
- c.284_285insT
- MANE Select
- NM_022124
- Type
- Insertion
- Location
- chr10:71510220 (GRCh38)
- Gene constraint
- LOEUF 0.685 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Residue 95
- the cadherin 1 domain
Similar variants
- CDH23 p.Val2635fs Pathogenic/Likely pathogenic ★★ same type
- CDH23 p.Asn2226fs Likely pathogenic ★ same type
- CDH23 p.Asp3025fs Pathogenic ★ same type
- CDH23 p.Gly2085fs Likely pathogenic ★ same type
- CDH23 p.Leu483fs Pathogenic ★ same type
- CDH23 p.Lys1442fs Likely pathogenic ★ same type
- CDH23 p.Phe2086fs Likely pathogenic ★ same type
- CDH23 p.Phe662fs 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/cdh23-p-arg95fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown