Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.

ABSTRACT: Genetic interpretation of rare variants associated with arrhythmogenic cardiomyopathy (ACM) is essential due to their diagnostic implications. New data may relabel previous variant classifications, but how often reanalysis is necessary remains undefined. Five years ago, 39 rare ACM-related variants were identified in patients with features of cardiomyopathy. These variants were classified following the American College of Medical Genetics and Genomics' guidelines. In the present study, we reevaluated these rare variants including novel available data. All cases carried one rare variant classified as being of ambiguous significance (82.05%) or likely pathogenic (17.95%) in 2016. In our comprehensive reanalysis, the classification of 30.77% of these variants changed, mainly due to updated gl

SUBMITTER: Vallverdu-Prats M 

PROVIDER: S-EPMC7996798 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature