Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001965860 | SCV002244923 | uncertain significance | 2-aminoadipic 2-oxoadipic aciduria | 2023-03-02 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1461459). 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 expected to disrupt DHTKD1 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. This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 892 of the DHTKD1 protein (p.Arg892Gln). This variant is present in population databases (rs574614585, gnomAD 0.006%). |