Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001329380 | SCV001520812 | pathogenic | L-2-hydroxyglutaric aciduria | 2019-07-17 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001329380 | SCV001585168 | pathogenic | L-2-hydroxyglutaric aciduria | 2020-07-09 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in L2HGDH are known to be pathogenic (PMID: 16134148, 20052767). This variant has been observed in individual(s) with L-2-hydroxyglutaric aciduria (PMID: 20052767). This sequence change creates a premature translational stop signal (p.Tyr301*) in the L2HGDH gene. It is expected to result in an absent or disrupted protein product. |