A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation. Issue 1 (14th December 2018)

• Record Type: Journal Article
• Authors: Connell, Patrick S.; Jeewa, Aamir; Kearney, Debra L.; Tunuguntla, Hari; Denfield, Susan W.; Allen, Hugh D.; Landstrom, Andrew P.
• Is Part Of: Clinical case reports. Volume 7:Issue 1(2019)
• Page Start: 211
• Page End: 217
• Publication Date: 2018-12-14
• Subjects: cardiomyopathy -- genetic testing -- variant of unknown significance -- whole exome sequencing; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1920
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: Variants of unknown significance in cardiomyopathic disease should be analyzed systematically based on the prevalence of the variant in the population compared to prevalence of disease, evidence that other variants in the gene are pathologic, consistency of prediction software on pathogenicity, and the current clinical consensus. Abstract : Variants of unknown significance in cardiomyopathic disease should be analyzed systematically based on the prevalence of the variant in the population compared to prevalence of disease, evidence that other variants in the gene are pathologic, consistency of prediction software on pathogenicity, and the current clinical consensus.