Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694373 | SCV000822816 | pathogenic | D-2-hydroxyglutaric aciduria 1 | 2018-01-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in D2HGDH are known to be pathogenic (PMID: 16081310, 20020533, 21384162). This variant has been reported in combination with another D2HGDH variant in an individual affected with D-2-hydroxyglutaric aciduria (PMID: 20020533). This variant is not present in population databases (ExAC no frequency). 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. |