ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4990G>A (p.Val1664Ile)

dbSNP: rs749434532
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002553109 SCV001207880 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-09-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186013 SCV001352341 uncertain significance Cardiomyopathy 2023-11-28 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 1664 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 cardiovascular disorders in the literature. This variant has been identified in 10/248998 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.
GeneDx RCV003153905 SCV003842613 uncertain significance not provided 2022-09-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; 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); This variant is associated with the following publications: (PMID: 19926015)

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