Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002034772 | SCV002220239 | uncertain significance | 2-aminoadipic 2-oxoadipic aciduria | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 296 of the DHTKD1 protein (p.Val296Met). This variant is present in population databases (rs763791918, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of steroid resistant nephrotic syndrome (PMID: 29127259). ClinVar contains an entry for this variant (Variation ID: 1344635). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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. |
Yale Center for Mendelian Genomics, |
RCV001849636 | SCV002106547 | uncertain significance | Nephrotic syndrome | 2017-11-10 | no assertion criteria provided | literature only |