ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.188C>G (p.Ser63Cys) (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 2020-09-24 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 63 of the D2HGDH protein (p.Ser63Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs752903016, ExAC 0.07%). This variant has not been reported in the literature in individuals with D2HGDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 445555). 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 C0). 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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