Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.
Jane MurphyClaire W KirkDeborah M LambertCatherine McGorrianRoddy WalshTerri P McVeighTerence PrendivilleDeirdre WardJoseph GalvinSally Ann LynchPublished in: Irish journal of medical science (2024)
Our study highlights the importance of collation and review of pre-ACMG genetic variants to increase diagnostic utility of genetic testing for inherited heart disease. Almost half of patients with pre-ACMG VUS reviewed had their variant re-classified to likely pathogenic/likely benign which resulted in a positive clinical impact for patients and their families.