ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.10901T>C (p.Ile3634Thr)

gnomAD frequency: 0.00001  dbSNP: rs1323235127
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047598 SCV001211565 uncertain significance Epileptic encephalopathy 2019-01-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 3634 of the RYR3 protein (p.Ile3634Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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.

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