ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8363G>A (p.Arg2788Lys)

gnomAD frequency: 0.00001  dbSNP: rs1374332710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068921 SCV001234058 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2019-01-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 2788 of the RYR2 protein (p.Arg2788Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual who suffered a sudden unexplained death (PMID: 29247119). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
Color Diagnostics, LLC DBA Color Health RCV001185899 SCV001352209 uncertain significance Cardiomyopathy 2020-06-24 criteria provided, single submitter clinical testing This missense variant replaces arginine with lysine at codon 2788 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 been reported in a cohort of sudden unexplained deaths (PMID: 29247119). This variant has been identified in 1/154708 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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