Is PKP2 the most common ARVC gene?

Yes. PKP2 accounts for 20-45% of definite ARVC cases. Most pathogenic variants are truncating (frameshift, nonsense, splice-site) with high penetrance, especially in males.

How are PKP2 missense variants classified?

PKP2 missense variants are classified using ACMG criteria: population frequency, in silico predictions, functional studies, and segregation data. Many are variants of uncertain significance (VUS) requiring clinical correlation.

Does PKP2 status affect ICD decisions in ARVC?

PKP2 pathogenic variant presence is a major Task Force criterion and supports ARVC diagnosis. It may lower the threshold for ICD in borderline cases, especially with exercise-induced arrhythmias.

PKP2 Pathogenicity Classification

Classify PKP2 (plakophilin-2) variants using ACMG criteria for pathogenicity in ARVC. Frameshift and nonsense variants are typically pathogenic; missense variants require extensive evidence.

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Frequently Asked Questions

Is PKP2 the most common ARVC gene?

How are PKP2 missense variants classified?

Does PKP2 status affect ICD decisions in ARVC?