ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4209A>G (p.Ala1403=)

gnomAD frequency: 0.00001  dbSNP: rs727505126
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Total submissions: 4
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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 RCV000156583 SCV000206302 likely benign not specified 2014-05-22 criteria provided, single submitter clinical testing Ala1403Ala in exon 32 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.
Invitae RCV002515029 SCV000760715 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-11-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190196 SCV001357636 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326890 SCV002628108 likely benign Cardiovascular phenotype 2022-02-17 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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