I had a VUS in my genetic report come back. Given that I do not have a family history if CPVT my doctor is not concerned. I would just like to hear people opinion on this.Through my research on the RYR2 gene and the information available on RYR2, most deletions are unlikely to be disease associated.
RYR2, Intron 88, c.11880+3_11880+6del (Intronic), heterozygous, Uncertain Significance. This sequence change falls in intron 88 of the RYR2 gene. It does not directly change the encoded amino acid sequence of the RYR2 protein, but it affects a nucleotide within the consensus splice site of the intron.
DIAGNOSTIC TESTING RESULTS his variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RYR2-related conditions.
Any thoughts or feedback would be really appreciated.