ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2045C>G (p.Thr682Arg)

gnomAD frequency: 0.00006  dbSNP: rs377285489
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772879 SCV000906261 uncertain significance Cardiomyopathy 2023-12-08 criteria provided, single submitter clinical testing This missense variant replaces threonine with arginine at codon 682 of the RYR2 protein. Computational prediction tools indicate that this variant has a neutral impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 13/280706 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV002534038 SCV001680099 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307406 SCV003999083 likely benign Cardiovascular phenotype 2023-03-20 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.
PreventionGenetics, part of Exact Sciences RCV003892694 SCV004712470 likely benign RYR2-related condition 2022-06-24 criteria provided, single submitter 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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