Assessment of disease-associated missense variants in RYR2 on transcript splicing

William Newman, Damilola Olubando, Luigi Venetucci, Raymond O'Keefe, Huw Thomas

Research output: Contribution to journalArticlepeer-review


Heterozygous RYR2 missense variants cause catecholaminergic polymorphic ventricular tachycardia. Rarely, loss of function variants can result in ventricular arrhythmias. We used splice prediction tools and an ex vivo splicing assay to investigate whether RYR2 missense variants result in altered splicing. Ten RYR2 variants were consistently predicted to disrupt splicing, however none altered splicing in the splicing assay. In summary, missense RYR2 variants are unlikely to cause disease by altered splicing.
Original languageEnglish
Publication statusAccepted/In press - 6 Apr 2020


  • CPVT, genetics, RYR2, splicing, rare disease


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