ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.76C>T (p.Arg26Trp)

gnomAD frequency: 0.00094  dbSNP: rs146696295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001436752 SCV001639596 likely benign D-2-hydroxyglutaric aciduria 1 2023-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540070 SCV003647405 likely benign Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003968075 SCV004790178 likely benign D2HGDH-related condition 2022-06-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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