ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10452G>T (p.Gly3484=) (rs199498105)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772677 SCV000905936 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000603326 SCV000729234 likely benign not specified 2017-11-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000639026 SCV000760584 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2018-09-17 criteria provided, single submitter clinical testing This sequence change affects codon 3484 of the RYR2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RYR2 protein. This variant is present in population databases (rs199498105, ExAC 0.003%). This variant has not been reported in the literature in individuals with RYR2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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