Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504446 | SCV000595484 | uncertain significance | not specified | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765168 | SCV000896398 | uncertain significance | L-2-hydroxyglutaric aciduria | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000765168 | SCV000939652 | uncertain significance | L-2-hydroxyglutaric aciduria | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 393 of the L2HGDH protein (p.Thr393Ala). This variant is present in population databases (rs150157112, gnomAD 0.05%), including at least one homozygous and/or hemizygous individual. 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: 435690). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt L2HGDH protein function. 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. |
Athena Diagnostics | RCV000676574 | SCV001475938 | likely benign | not provided | 2020-04-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002524213 | SCV003569597 | uncertain significance | Inborn genetic diseases | 2022-02-10 | criteria provided, single submitter | clinical testing | The c.1177A>G (p.T393A) alteration is located in exon 9 (coding exon 9) of the L2HGDH gene. This alteration results from a A to G substitution at nucleotide position 1177, causing the threonine (T) at amino acid position 393 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV000676574 | SCV000802361 | uncertain significance | not provided | 2016-03-14 | no assertion criteria provided | clinical testing |