ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3225C>T (p.Ala1075=)

gnomAD frequency: 0.00018  dbSNP: rs727505215
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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 RCV000156712 SCV000206433 likely benign not specified 2014-07-24 criteria provided, single submitter clinical testing p.Ala1075Ala in exon 28 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.
GeneDx RCV000156712 SCV000514438 benign not specified 2016-06-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002515032 SCV000637550 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177344 SCV001341539 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321653 SCV002610253 likely benign Cardiovascular phenotype 2019-03-26 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 RCV003998322 SCV004821315 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-09-17 criteria provided, single submitter clinical testing

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