Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000001674 | SCV001934483 | likely pathogenic | L-2-hydroxyglutaric aciduria | 2021-03-15 | criteria provided, single submitter | clinical testing | This variant was identified as homozygous. |
Ce |
RCV002274874 | SCV002563199 | likely pathogenic | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | L2HGDH: PM2, PM3, PP4:Moderate, PP1, PP3 |
MGZ Medical Genetics Center | RCV000001674 | SCV002579016 | likely pathogenic | L-2-hydroxyglutaric aciduria | 2022-05-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000001674 | SCV004297090 | pathogenic | L-2-hydroxyglutaric aciduria | 2023-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1607). This missense change has been observed in individual(s) with clinical features of L-2-hydroxyglutaric aciduria (PMID: 15385440, 16134148, 18415700; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs118204020, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 302 of the L2HGDH protein (p.Pro302Leu). |
OMIM | RCV000001674 | SCV000021830 | pathogenic | L-2-hydroxyglutaric aciduria | 2004-11-15 | no assertion criteria provided | literature only |