ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.5827G>A (p.Glu1943Lys)

gnomAD frequency: 0.00001  dbSNP: rs752171274
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204224 SCV001375423 uncertain significance Epileptic encephalopathy 2022-08-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 935593). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1943 of the RYR3 protein (p.Glu1943Lys). This variant is present in population databases (rs752171274, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RYR3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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