ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6726G>A (p.Val2242=)

gnomAD frequency: 0.00002  dbSNP: rs767246962
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185255 SCV001351430 likely benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005208746 SCV001618232 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000231760 SCV001797231 uncertain significance not provided 2021-05-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Reported in ClinVar (ClinVar Variant ID# 238239; Landrum et al., 2016)
Ambry Genetics RCV002365180 SCV002665055 likely benign Cardiovascular phenotype 2018-08-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
All of Us Research Program, National Institutes of Health RCV001416062 SCV004816351 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-01 criteria provided, single submitter clinical testing

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