Open AccessA 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation
Author(s) -
Connell Patrick S.,
Jeewa Aamir,
Kearney Debra L.,
Tunuguntla Hari,
Denfield Susan W.,
Allen Hugh D.,
Landstrom Andrew P.
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1920
Subject(s) - medicine , heart failure , cardiomyopathy , disease , gene , pathogenicity , consistency (knowledge bases) , clinical significance , population , bioinformatics , genetics , cardiology , biology , environmental health , microbiology and biotechnology , geometry , mathematics
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.