ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.5685G>T (p.Glu1895Asp)

gnomAD frequency: 0.00002  dbSNP: rs749924697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001314864 SCV001505414 uncertain significance Epileptic encephalopathy 2020-06-06 criteria provided, single submitter clinical testing This variant is present in population databases (rs749924697, ExAC 0.003%). This sequence change replaces glutamic acid with aspartic acid at codon 1895 of the RYR3 protein (p.Glu1895Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant has not been reported in the literature in individuals with RYR3-related conditions. 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. 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 and their clinical significance is uncertain.

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