Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.

ABSTRACT: A proper interpretation of the pathogenicity of rare variants is crucial before clinical translation. Ongoing addition of new data may modify previous variant classifications; however, how often a reanalysis is necessary remains undefined. We aimed to extensively reanalyze rare variants associated with inherited channelopathies originally classified 5 years ago and its clinical impact. In 2016, rare variants identified through genetic analysis were classified following the American College of Medical Genetics and Genomics' recommendations. Five years later, we have reclassified the same variants following the same recommendations but including new available data. Potential clinical implications were discussed. Our cohort included 49 cases of inherited channelopathies diagnosed in 2016. Upd

SUBMITTER: Sarquella-Brugada G 

PROVIDER: S-EPMC9522753 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature