ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)

gnomAD frequency: 0.00051  dbSNP: rs370297602
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Total submissions: 8
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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 RCV000221603 SCV000270803 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ser4221Ser in Exon 90 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence. It has been identified in 0.1% (3/3310) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
Invitae RCV002517496 SCV000637502 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001175631 SCV001339303 benign Cardiomyopathy 2019-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001541044 SCV001758994 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444857 SCV002682480 likely benign Cardiovascular phenotype 2019-04-25 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.
PreventionGenetics, part of Exact Sciences RCV003955262 SCV004772788 likely benign RYR2-related condition 2019-07-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001541044 SCV001979347 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001541044 SCV001980164 uncertain significance not provided no assertion criteria provided clinical testing

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