ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)

gnomAD frequency: 0.00023  dbSNP: rs202020477
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520895 SCV000620571 uncertain significance not provided 2023-08-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenic missense variants occur (Medeiros-Domingo et al., 2009); In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV002527633 SCV000830182 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-11-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188646 SCV001355735 uncertain significance Cardiomyopathy 2023-05-24 criteria provided, single submitter clinical testing This missense variant replaces serine with asparagine at codon 2687 of the RYR2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR2-related disorders in the literature. This variant has been identified in 10/278538 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000520895 SCV001715667 uncertain significance not provided 2020-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413416 SCV002675689 likely benign Cardiovascular phenotype 2023-04-11 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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