ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3442G>A (p.Val1148Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817122 SCV000957667 uncertain significance RYR1-Related Disorders 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1148 of the RYR1 protein (p.Val1148Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs201174268, ExAC 0.006%). This variant has not been reported in the literature in individuals with RYR1-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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
PreventionGenetics RCV000721497 SCV000852573 uncertain significance not provided 2013-10-21 criteria provided, single submitter clinical testing

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