Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003731186 | SCV004529958 | uncertain significance | not provided | 2023-02-24 | 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 expected to disrupt USB1 protein function. This variant has not been reported in the literature in individuals affected with USB1-related conditions. This variant is present in population databases (rs139558948, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 167 of the USB1 protein (p.Thr167Ala). |
| Ambry Genetics | RCV005291023 | SCV005963175 | uncertain significance | Inborn genetic diseases | 2025-02-15 | criteria provided, single submitter | clinical testing | The p.T167A variant (also known as c.499A>G), located in coding exon 4 of the USB1 gene, results from an A to G substitution at nucleotide position 499. The threonine at codon 167 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |