Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003122731 | SCV003795579 | pathogenic | L-2-hydroxyglutaric aciduria | 2022-01-27 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 5 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). A similar copy number variant has been observed in individual(s) with L-2-hydroxyglutaric aciduria (PMID: 20052767). For these reasons, this variant has been classified as Pathogenic. |