ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.1354C>G (p.Gln452Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203124 SCV001374271 uncertain significance D-2-hydroxyglutaric aciduria 2 2019-06-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 452 of the IDH2 protein (p.Gln452Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs553627406, ExAC 0.05%). This variant has not been reported in the literature in individuals with IDH2-related conditions. 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. 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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