Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000703363 | SCV000832260 | uncertain significance | L-2-hydroxyglutaric aciduria | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 196 of the L2HGDH protein (p.Arg196Trp). This variant is present in population databases (rs368140834, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with L2HGDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 579954). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
| Fulgent Genetics, |
RCV000703363 | SCV002815970 | uncertain significance | L-2-hydroxyglutaric aciduria | 2021-07-26 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002533684 | SCV003710793 | uncertain significance | Inborn genetic diseases | 2022-06-10 | criteria provided, single submitter | clinical testing | The c.586C>T (p.R196W) alteration is located in exon 5 (coding exon 5) of the L2HGDH gene. This alteration results from a C to T substitution at nucleotide position 586, causing the arginine (R) at amino acid position 196 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |