ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.6756G>C (p.Glu2252Asp)

dbSNP: rs760270042
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705013 SCV000833991 uncertain significance Epileptic encephalopathy 2019-06-14 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C35"). 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 disease. This variant is present in population databases (rs760270042, ExAC 0.002%). This sequence change replaces glutamic acid with aspartic acid at codon 2252 of the RYR3 protein (p.Glu2252Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.

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