ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.7208C>A (p.Ser2403Tyr)

dbSNP: rs745908297
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001365386 SCV001561654 uncertain significance Epileptic encephalopathy 2020-06-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RYR3-related conditions. 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: "Benign"; 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. This sequence change replaces serine with tyrosine at codon 2403 of the RYR3 protein (p.Ser2403Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine.

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