ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4566C>T (p.Ala1522=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003188162 SCV003868947 likely benign Cardiovascular phenotype 2023-02-25 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 RCV004009662 SCV004823915 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005101185 SCV005822129 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-10-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538917 SCV004748183 likely benign RYR2-related disorder 2023-08-10 no assertion criteria provided 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).

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