ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.9811C>T (p.Arg3271Cys)

gnomAD frequency: 0.00002  dbSNP: rs200295482
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001303911 SCV001493177 uncertain significance Epileptic encephalopathy 2020-07-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 3271 of the RYR3 protein (p.Arg3271Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs200295482, ExAC 0.04%). This variant has not been reported in the literature in individuals with RYR3-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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