ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001142182 SCV001302594 uncertain significance D-2-hydroxyglutaric aciduria 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001142182 SCV001535083 uncertain significance D-2-hydroxyglutaric aciduria 1 2020-08-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 233 of the D2HGDH protein (p.Gly233Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs374535734, ExAC 0.003%). This variant has been observed in individual(s) with D-2-hydroxyglutaric aciduria (PMID: 20020533, Invitae). ClinVar contains an entry for this variant (Variation ID: 898353). This variant has been reported to affect D2HGDH protein function (PMID: 30908763). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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