ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10966A>G (p.Ser3656Gly) (rs774373483)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555613 SCV000659758 uncertain significance RYR1-Related Disorders 2016-10-31 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 3656 of the RYR1 protein (p.Ser3656Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs774373483, ExAC 0.01%) but has not been reported in the literature in individuals with a RYR1-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect 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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