ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.1234C>T (p.Arg412Trp)

gnomAD frequency: 0.00005  dbSNP: rs772848050
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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 RCV001071797 SCV001237118 uncertain significance Epileptic encephalopathy 2020-09-08 criteria provided, single submitter clinical testing 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"). This variant has not been reported in the literature in individuals with RYR3-related conditions. This variant is present in population databases (rs772848050, ExAC 0.009%). This sequence change replaces arginine with tryptophan at codon 412 of the RYR3 protein (p.Arg412Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. 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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