A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation

Clin Case Rep. 2018 Dec 14;7(1):211-217. doi: 10.1002/ccr3.1920. eCollection 2019 Jan.

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.

Keywords: cardiomyopathy; genetic testing; variant of unknown significance; whole exome sequencing.

Publication types

  • Case Reports