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. This evidence concerns the gene RYR2 and Arrhythmogenic right ventricular dysplasia.