ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3921G>A (p.Pro1307=)

gnomAD frequency: 0.00002  dbSNP: rs201469656
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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 RCV000156896 SCV000206617 likely benign not specified 2014-11-20 criteria provided, single submitter clinical testing p.Pro1307Pro in exon 31 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 2/8726 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs200406978).
Color Diagnostics, LLC DBA Color Health RCV001177861 SCV001342143 likely benign Cardiomyopathy 2020-03-23 criteria provided, single submitter clinical testing
Invitae RCV001432245 SCV001635009 likely benign Catecholaminergic polymorphic ventricular tachycardia 2020-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000474758 SCV001849636 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162649 SCV003911275 likely benign Cardiovascular phenotype 2022-11-02 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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