Rare RYR2 p.Thr85Ile variant is associated with catecholaminergic polymorphic ventricular tachycardia.

Abstract excerpt

Mutations in the cardiac ryanodine receptor 2 gene (RYR2) are noted in approximately 55% of the patients with catecholaminergic polymorphic ventricular tachycardia (CPVT). However, a high background rate of rare amino acid-altering variants in RYR2 [≈3% (whites) to 6% (nonwhites)] in combination with delayed onset and variable expressivity of the CPVT phenotype make attributing causality to rare RYR2 variants...

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