A mouse model with one of the variants also showed a CPVT-like phenotype with no evidence of fibro-fatty infiltration or structural alterations characteristic of ARVC.43 In articles reporting RYR2 missense variants in possible ARVC probands the minor allele frequency was often too high, cases did not have a clear ARVC diagnosis, segregation information was often not informative, and in several cases, CPVT was said to also be present in the family. The gene discussed is RYR2; the disease is arrhythmogenic right ventricular cardiomyopathy.