PKP2 c.(?_1689
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
arrhythmogenic right ventricular cardiomyopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- PKP2
- Coding
- c.(?_1689
- MANE Select
- NM_001005242 · reported on NM_004572
- Type
- Deletion
- Location
- chr12:None (GRCh38)
- Gene constraint
- LOEUF 1.105 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.32 · 1 PDB
Similar variants
- PKP2 p.Asn715fs Pathogenic/Likely pathogenic ★★ same condition
- PKP2 p.Glu85fs Pathogenic/Likely pathogenic ★★ same condition
- PKP2 p.Gly504fs Pathogenic ★★ same condition
- PKP2 p.Leu422fs Pathogenic ★★ same condition
- PKP2 p.Leu570fs Pathogenic/Likely pathogenic ★★ same condition
- PKP2 p.Lys456_Gln457insTer Pathogenic/Likely pathogenic ★★ same condition
- PKP2 p.Lys703fs Pathogenic/Likely pathogenic ★★ same condition
- PKP2 p.Ser793fs Pathogenic/Likely 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/pkp2-c-1689 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown