Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032200 | SCV001195507 | pathogenic | L-2-hydroxyglutaric aciduria | 2019-03-13 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 7-8 of the L2HGDH gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with L2HGDH-related conditions. Loss-of-function variants in L2HGDH are known to be pathogenic (PMID: 16134148, 20052767). For these reasons, this variant has been classified as Pathogenic. |