Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003239172 | SCV003936604 | uncertain significance | not provided | 2022-12-28 | criteria provided, single submitter | clinical testing | Reported in heterozygous state as a variant of uncertain significance in a patient with polyneuritis and suspected CMT (Vaeth et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29653220) |
Labcorp Genetics |
RCV003528452 | SCV004285248 | uncertain significance | 2-aminoadipic 2-oxoadipic aciduria | 2023-05-30 | criteria provided, single submitter | clinical testing | 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 not expected to disrupt DHTKD1 protein function. This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 29653220). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 570 of the DHTKD1 protein (p.Asp570Gly). |