PCDH15 c.(?_3374
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Rare genetic deafness
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- PCDH15
- Coding
- c.(?_3374
- MANE Select
- NM_001384140 · reported on NM_033056
- Type
- Deletion
- Location
- chr10:None (GRCh38)
- Gene constraint
- LOEUF 0.819 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 66.05 · 8 PDB
Similar variants
- PCDH15 c.1998-2A>G Pathogenic/Likely pathogenic ★★ same condition
- PCDH15 p.Arg1120Ter Pathogenic ★★ same condition
- PCDH15 p.Arg134Gly Pathogenic/Likely pathogenic ★★ ⚠ same condition
- PCDH15 p.Ile807fs Pathogenic ★★ same condition
- PCDH15 p.Phe1148fs Pathogenic ★★ same condition
- PCDH15 c.1997+1del Pathogenic/Likely pathogenic ★★ same type
- PCDH15 c.706-3_717del Pathogenic/Likely pathogenic ★★ same type
- PCDH15 p.Arg577fs Pathogenic/Likely 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/pcdh15-c-3374 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown