ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9891G>A (p.Lys3297=)

gnomAD frequency: 0.00008  dbSNP: rs368661838
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154823 SCV000204505 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Lys3297Lys in exon 68 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/6608 European A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS).
GeneDx RCV001719962 SCV000521999 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186004 SCV001352329 likely benign Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing
Invitae RCV002516110 SCV001690506 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381493 SCV002690961 likely benign Cardiovascular phenotype 2019-12-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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