Genetic variant annotation scores in congenital long QT syndrome.

ABSTRACT:

Background

Congenital Long QT Syndrome (LQTS) is a hereditary arrhythmic disorder. We aimed to assess the performance of current genetic variant annotation scores among LQTS patients and their predictive impact.

Methods

We evaluated 2025 patients with unique mutations for LQT1-LQT3. A patient-specific score was calculated for each of four established genetic variant annotation algorithms: CADD, SIFT, REVEL, and PolyPhen-2. The scores were tested for the identification of LQTS and their predictive performance for cardiac events (CE) and life-threatening events (LTE) and then compared with the predictive performance of LQTS categorization based on mutation location/function. Score performance was tested using Harrell's C-index.

Results

A total of 917 subjects were class

SUBMITTER: Younis A 

PROVIDER: S-EPMC10475886 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature