Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002933120 | SCV003265749 | uncertain significance | 2-aminoadipic 2-oxoadipic aciduria | 2023-03-24 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 233 of the DHTKD1 protein (p.Leu233His). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 2055017). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. |