ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.642del (p.Arg215fs) (rs1559361049)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694373 SCV000822816 pathogenic D-2-hydroxyglutaric aciduria 1 2018-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg215Aspfs*25) in the D2HGDH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another D2HGDH variant in an individual affected with D-2-hydroxyglutaric aciduria (PMID: 20020533). Loss-of-function variants in D2HGDH are known to be pathogenic (PMID: 16081310, 20020533, 21384162). For these reasons, this variant has been classified as Pathogenic.

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