ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3735G>A (p.Arg1245=)

gnomAD frequency: 0.00001  dbSNP: rs190884873
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Total submissions: 6
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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 RCV000151758 SCV000200153 likely benign not specified 2014-04-04 criteria provided, single submitter clinical testing Arg1245Arg in exon 30 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.8% (1/132) of Mex ican chromosomes from a broad population by the 1000 Genomes Project (http://www .ncbi.nlm.nih.gov/projects/SNP; dbSNP rs190884873).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000151758 SCV000918172 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001804861 SCV002053660 likely benign Cardiomyopathy 2021-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514924 SCV002419471 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345475 SCV002622532 likely benign Cardiovascular phenotype 2022-04-04 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 RCV003998218 SCV004819250 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-13 criteria provided, single submitter clinical testing

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