Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics
European Heart Journal
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 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.
Contributors
Elijah R Behr
Author
City St George's University of London London , United Kingdom of Great Britain & Northern Ireland
Lucie Carrier
Author
Cornelia van Duijn
Author
University of Oxford Oxford , United Kingdom of Great Britain & Northern Ireland
Paul Evans
Author
Valentina Favalli
Author
Guillaume Jondeau
Author
Stefan Kääb
Author
Juan Pablo Kaski
Author
University College London London , United Kingdom of Great Britain & Northern Ireland
Maryam Kavousi
Author
Antonis Pantazis
Author
Yigal Pinto
Author
Heribert Schunkert
Author
Alessandro Di Toro
Author
Thomas Thum
Author
Mario Urtis
Author
Perry Elliott
Author
University College London London , United Kingdom of Great Britain & Northern Ireland
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