Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

ABSTRACT: Sudden death cases in the young population remain without a conclusive cause of decease in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Molecular autopsy may reveal a genetic defect in up to 20% of families. Most than 80% of rare variants remain classified with an ambiguous role, impeding a useful clinical translation. Our aim was to update rare variants originally classified as of unknown significance to clarify their role. Our cohort included fifty-one post-mortem samples of young cases who died suddenly and without a definite cause of death. Five years ago, molecular autopsy identified at least one rare genetic alteration classified then as ambiguous following the American College of Medical Genetics an

SUBMITTER: Martinez-Barrios E 

PROVIDER: S-EPMC9902310 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature