ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.703A>G (p.Thr235Ala)

gnomAD frequency: 0.00001  dbSNP: rs760619857
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364097 SCV001560230 uncertain significance Epileptic encephalopathy 2020-02-04 criteria provided, single submitter clinical testing 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 variant has not been reported in the literature in individuals with RYR3-related conditions. This variant is present in population databases (rs760619857, ExAC 0.001%). This sequence change replaces threonine with alanine at codon 235 of the RYR3 protein (p.Thr235Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine.

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