ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.3108C>G (p.Ser1036Arg)

dbSNP: rs1555384709
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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 RCV000530382 SCV000634827 uncertain significance Epileptic encephalopathy 2017-04-30 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RYR3-related disease. This sequence change replaces serine with arginine at codon 1036 of the RYR3 protein (p.Ser1036Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. 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 novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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