ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu)

dbSNP: rs753630324
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187501 SCV001354319 uncertain significance Cardiomyopathy 2022-12-09 criteria provided, single submitter clinical testing This missense variant replaces arginine with leucine at codon 3397 of the RYR2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 4/246906 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559979 SCV001533877 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-08-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509126 SCV001715668 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356855 SCV002657982 uncertain significance Cardiovascular phenotype 2019-01-28 criteria provided, single submitter clinical testing The p.R3397L variant (also known as c.10190G>T), located in coding exon 70 of the RYR2 gene, results from a G to T substitution at nucleotide position 10190. The arginine at codon 3397 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004008704 SCV004815255 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-04-03 criteria provided, single submitter clinical testing This missense variant replaces arginine with leucine at codon 3397 of the RYR2 protein. Computational prediction tool is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 4/246906 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.

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