ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2562A>G (p.Thr854=)

gnomAD frequency: 0.00001  dbSNP: rs727503398
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Total submissions: 3
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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 RCV000151757 SCV000200145 likely benign not specified 2013-04-04 criteria provided, single submitter clinical testing Thr854Thr in exon 22 of RYR2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Thr854Thr in exon 22 of RYR2 (allele frequenc y = n/a)
Invitae RCV002514923 SCV000554618 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453493 SCV002740222 likely benign Cardiovascular phenotype 2022-10-21 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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