ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6757C>G (p.Leu2253Val)

dbSNP: rs876661389
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Stanford Center for Inherited Cardiovascular Disease, Stanford University 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.