"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".

ABSTRACT:

Background

Genetic diagnostics support the diagnosis of hereditary arrhythmogenic diseases, but variants of uncertain significance (VUS) complicate matters, emphasising the need for regular reassessment. Our study aims to reanalyse rare variants in different genes in order to decrease VUS diagnoses and thus improve risk stratification and personalized treatment for patients with arrhythmogenic disorders.

Methods

Genomic DNA was analysed using Sanger sequencing and next-generation sequencing (NGS). The Data was evaluated using various databases and in silico prediction tools and classified according to current ACMG standards by two independent experts.

Results

We identified 53 VUS in 30 genes, of which 17 variants (32%) were reclassified. 13% each were downgraded to li

SUBMITTER: Martin S 

PROVIDER: S-EPMC11282671 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature