Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003122732 | SCV003795580 | pathogenic | L-2-hydroxyglutaric aciduria | 2022-10-25 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 3-4 of the L2HGDH gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in L2HGDH are known to be pathogenic (PMID: 16134148, 20052767). This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. For these reasons, this variant has been classified as Pathogenic. |