Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002012278 | SCV002236553 | pathogenic | L-2-hydroxyglutaric aciduria | 2022-06-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. This variant is present in population databases (rs748910382, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Tyr285Thrfs*4) in the L2HGDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in L2HGDH are known to be pathogenic (PMID: 16134148, 20052767). |