ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.1054G>C (p.Glu352Gln)

dbSNP: rs1697158886
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221548 SCV001393600 uncertain significance D-2-hydroxyglutaric aciduria 1 2019-04-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 352 of the D2HGDH protein (p.Glu352Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with D2HGDH-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 C25"). 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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