ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10790G>A (p.Arg3597Lys)

gnomAD frequency: 0.00001  dbSNP: rs757494145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594627 SCV000706624 uncertain significance not provided 2017-03-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178640 SCV001343143 uncertain significance Cardiomyopathy 2021-07-27 criteria provided, single submitter clinical testing This variant is located in the RYR2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 2/245636 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.
Ambry Genetics RCV003302917 SCV004009317 uncertain significance Cardiovascular phenotype 2023-04-06 criteria provided, single submitter clinical testing The p.R3597K variant (also known as c.10790G>A), located in coding exon 76 of the RYR2 gene, results from a G to A substitution at nucleotide position 10790. The arginine at codon 3597 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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