Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals [Original Article]
Conclusions—
The prevalence of incidentally identified CPVT-associated variants is 9% among WES tests. Variants of undetermined significances in CPVT-associated genes in WES genetic testing, in the absence of clinical suspicion for CPVT, are unlikely to represent markers of CPVT pathogenicity.
Source: Circulation: Arrhythmia and Electrophysiology - Category: Cardiology Authors: Landstrom, A. P., Dailey-Schwartz, A. L., Rosenfeld, J. A., Yang, Y., McLean, M. J., Miyake, C. Y., Valdes, S. O., Fan, Y., Allen, H. D., Penny, D. J., Kim, J. J. Tags: Arrhythmias, Translational Studies, Genetics Original Article Source Type: research