Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001070930 | SCV001236210 | pathogenic | L-2-hydroxyglutaric aciduria | 2019-05-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg277*) in the L2HGDH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752025180, ExAC 0.001%). This variant has been observed in an individual affected with L-2-hydroxyglutaric aciduria (PMID: 20052767). Loss-of-function variants in L2HGDH are known to be pathogenic (PMID: 16134148, 20052767). For these reasons, this variant has been classified as Pathogenic. |