ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13069G>A (p.Ala4357Thr)

gnomAD frequency: 0.00009  dbSNP: rs747622318
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707822 SCV000726336 likely benign not provided 2020-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003103812 SCV001016500 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-08-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187322 SCV001354092 likely benign Cardiomyopathy 2018-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002385929 SCV002689949 likely benign Cardiovascular phenotype 2019-05-31 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.
PreventionGenetics, part of Exact Sciences RCV004740369 SCV005345311 likely benign RYR2-related disorder 2024-03-13 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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