rs876657635

Description

The c.940-1G>T variant in CASQ2 has not been previously reported in individuals with CPVT and was absent from large population studies. This variant occurs in t he invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Homozygous o r compound heterozygous variants in CASQ2 are strongly associated with CPVT and splice variants as well as loss-of-function variants are part of the pathogenic variant spectrum (Roux-Buisson 2011). In summary, although additional studies ar e required to fully establish its clinical significance, the c.940-1G>T variant is likely pathogenic for CPVT in an autosomal recessive manner.