International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

Abstract

Using the Clinical Genome Resource approach to gene-disease curation, only 8 genes (<i>PKP2</i>, <i>DSP</i>, <i>DSG2</i>, <i>DSC2</i>, <i>JUP</i>, <i>TMEM43</i>, <i>PLN</i>, and <i>DES</i>) had definitive or moderate evidence for ARVC, and these genes accounted for nearly all pathogenic/likely pathogenic ARVC variants in ClinVar. Therefore, only pathogenic/likely pathogenic variants in these 8 genes should yield a major criterion for ARVC diagnosis. Pathogenic/likely pathogenic variants identified in other genes in a patient should prompt further phenotyping as variants in many of these genes are associated with other cardiovascular conditions.