Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Al Jalila Children's Genomics Center, |
RCV001733733 | SCV001984574 | uncertain significance | L-2-hydroxyglutaric aciduria | 2020-02-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001733733 | SCV002203481 | uncertain significance | L-2-hydroxyglutaric aciduria | 2022-03-19 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1301784). This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. This variant is present in population databases (rs149220807, gnomAD 0.03%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 238 of the L2HGDH protein (p.Tyr238Cys). |
Revvity Omics, |
RCV001733733 | SCV004235959 | uncertain significance | L-2-hydroxyglutaric aciduria | 2023-11-15 | criteria provided, single submitter | clinical testing |