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

doi:10.1007/s00439-021-02370-4

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Article

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

Human genetics - 1 Oct 2022

Sarquella-Brugada Georgia, Fernandez-Falgueras Anna, Cesar Sergi, Arbelo Elena, Coll Mónica, Perez-Serra Alexandra, Puigmulé Marta, Iglesias Anna, Alcalde Mireia, Vallverdú-Prats Marta, Fiol Victoria, Ferrer-Costa Carles, Del Olmo Bernat, Picó Ferran, Lopez Laura, García-Alvarez Ana, Jordà Paloma, Tiron de Llano Coloma, Toro Rocío, Grassi Simone, Oliva Antonio, Brugada Josep, Brugada Ramon, Campuzano Oscar

Abstract excerpt

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...

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PMID: 34546463
DOI: 10.1007/s00439-021-02370-4
PMCID: PMC9522753

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