ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.281G>C (p.Arg94Pro)

gnomAD frequency: 0.00002  dbSNP: rs797045509
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193301 SCV000247152 uncertain significance not specified 2014-12-10 criteria provided, single submitter clinical testing
Invitae RCV001324108 SCV001515050 uncertain significance D-2-hydroxyglutaric aciduria 1 2020-11-06 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with D-2-hydroxyglutaric aciduria (Invitae). ClinVar contains an entry for this variant (Variation ID: 210818). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 94 of the D2HGDH protein (p.Arg94Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.