Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003062631 | SCV003442333 | pathogenic | L-2-hydroxyglutaric aciduria | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg251*) 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). This variant is present in population databases (rs547796370, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with L-2-hydroxyglutaric aciduria (PMID: 18415700). ClinVar contains an entry for this variant (Variation ID: 2137582). For these reasons, this variant has been classified as Pathogenic. |