ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys) (rs940667860)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475678 SCV000541646 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-07-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 801 of the RYR2 protein (p.Arg801Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. While this variant is not present in population databases (ExAC no frequency), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Integrated Genetics/Laboratory Corporation of America RCV000587535 SCV000697616 uncertain significance not provided 2016-02-15 criteria provided, single submitter clinical testing

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