ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.188C>G (p.Ser63Cys)

gnomAD frequency: 0.00001  dbSNP: rs752903016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514428 SCV000610056 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Invitae RCV001305648 SCV001494991 uncertain significance D-2-hydroxyglutaric aciduria 1 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 63 of the D2HGDH protein (p.Ser63Cys). This variant is present in population databases (rs752903016, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with D2HGDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 445555). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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