@misc{10498/33546,
year = {2024},
url = {http://hdl.handle.net/10498/33546},
abstract = {Dilated cardiomyopathy is a heterogeneous entity that leads to heart failure and malignant
arrhythmias. Nearly 50% of cases are inherited; therefore, genetic analysis is crucial to unravel the
cause and for the early identification of carriers at risk. A large number of variants remain classified
as ambiguous, impeding an actionable clinical translation. Our goal was to perform a comprehensive
update of variants previously classified with an ambiguous role, applying a new algorithm of already
available tools. In a cohort of 65 cases diagnosed with dilated cardiomyopathy, a total of 125 genetic
variants were classified as ambiguous. Our reanalysis resulted in the reclassification of 12% of variants
from an unknown to likely benign or likely pathogenic role, due to improved population frequencies.
For all the remaining ambiguous variants, we used our algorithm; 60.9% showed a potential but not
confirmed deleterious role, and 24.5% showed a potential benign role. Periodically updating the
population frequencies is a cheap and fast action, making it possible to clarify the role of ambiguous
variants. Here, we performa comprehensive reanalysis to help to clarify the role of most of ambiguous
variants. Our specific algorithms facilitate genetic interpretation in dilated cardiomyopathy.},
publisher = {MDPI},
keywords = {sudden cardiac death},
keywords = {dilated cardiomyopathy},
keywords = {genetics},
keywords = {interpretation},
title = {Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy},
doi = {10.3390/IJMS25073807},
author = {Pérez Serra, Alexandra and Toro Cebada, Rocío and Martínez Barrios, Estefanía and Iglesias, Anna and Fernández Falgueras, Anna and Alcalde, Mireia and Coll, Mónica and Puigmulé, Marta and del Olmo, Bernat and Picó, Ferran and López, Laura and Arbelo, Elena and César, Sergi and Tirón de Llano, Coloma and Mangas Rojas, Alipio and Brugada, Josep and Sarquella Brugada, Georgia and Brugada, Ramón and Campuzano, Oscar},
}