Reclassification of genetic variants in children with long QT syndrome.

ABSTRACT:

Background

Genes encoding cardiac ion channels or regulating proteins have been associated with the inherited form of long QT syndrome (LQTS). Complex pathophysiology and missing functional studies, however, often bedevil variant interpretation and classification. We aimed to evaluate the rate of change in variant classification based on current interpretation standards and dependent on clinical findings.

Methods

Medical charts of children with a molecular genetic diagnosis of LQTS presenting at our centers were retrospectively reviewed. Reinterpretation of originally reported variants in genes associated with LQTS was performed based on current knowledge (March 2019) and according to the "Standards and Guidelines for the Interpretation of Sequence Variants" by the ACMG 2015

SUBMITTER: Westphal DS 

PROVIDER: S-EPMC7506994 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature