Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Stanford Center for Inherited Cardiovascular Disease, |
RCV000223935 | SCV000280455 | uncertain significance | not specified | 2015-08-05 | no assertion criteria provided | clinical testing | Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p. Leu2253Val (c.6757C>G) in the RYR2 gene. This variant is novel; it has not been reported in association with disease nor as a benign polymorphism. It is not listed in dbSNP. This is a conservative amino acid change with the replacement of one non-polar amino acid with another. Leucine is highly conserved at this position across species. In silico analysis (PolyPhen2) predicts the amino acid change to be probably damaging to protein structure and function. Variants in nearby codons have been reported in association with CPVT (p.Ser2246Leu, p.Ala2254Val) (Priori et al 2001, Tester et al 2004, Postma et al 2005, Medeiros-Domingo et al) further implicating the functional significance of this region of the protein. |