Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics
Arbustini, Eloisa; Behr, Elijah R; Carrier, Lucie; van Duijn, Cornelia; Evans, Paul; Favalli, Valentina; van der Harst, Pim; Haugaa, Kristina Hermann; Jondeau, Guillaume; Kääb, Stefan; Kaski, Juan Pablo; Kavousi, Maryam; Loeys, Bart; Pantazis, Antonis; Pinto, Yigal; Schunkert, Heribert; Di Toro, Alessandro; Thum, Thomas; Urtis, Mario; Waltenberger, Johannes; Elliott, Perry
(2022) European heart journal, volume 43, issue 20, pp. 1901 - 1916a
(Article)
Abstract
This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic diagnosis and the interpretation of molecular genetic reports. The identification of a genetic variant of
... read more
unknown or uncertain significance is a limitation of genetic testing, but current guidelines for the interpretation of genetic variants include essential contributions from clinical family screening that can establish a de novo assignment of the variant or its segregation with the phenotype in the family. A partnership between clinicians and patients helps to solve major uncertainties and provides reliable and clinically actionable information.
show less
Download/Full Text
The full text of this publication is not available.
Keywords: Cardiomyopathies, Genetic variant, Interpretation, Pathogenicity, Variants of uncertain significance (VUS), Cardiology and Cardiovascular Medicine
ISSN: 0195-668X
Publisher: Oxford University Press
Note: Publisher Copyright: © Crown copyright 2022.
(Peer reviewed)