ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly) (rs550691734)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081742 SCV000541677 likely benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000520735 SCV000616859 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RYR2 gene. The V2933G variant has not been published as pathogenic or been reported as benign to our knowledge. The V2933G variant is observed in 25/30660 (0.08%) alleles from individuals of South Asian ancesty in large population cohorts (Lek et al., 2016). The V2933G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. The V2933G variant is 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). Nevertheless, this substitution occurs at a position where only amino acids with similar properties to valine (V) are tolerated across species. Finally, in silico analysis predicts this variant is probably damaging to the protein structure/function.
Color RCV001186329 SCV001352722 uncertain significance Cardiomyopathy 2018-12-17 criteria provided, single submitter clinical testing

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