ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.10813G>A (p.Glu3605Lys)

gnomAD frequency: 0.00005  dbSNP: rs369689229
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551377 SCV000634757 uncertain significance Epileptic encephalopathy 2020-11-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 3605 of the RYR3 protein (p.Glu3605Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs369689229, ExAC 0.08%) but has not been reported in the literature in individuals with a RYR3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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