Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001926915 | SCV002202620 | uncertain significance | not provided | 2022-11-28 | 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. ClinVar contains an entry for this variant (Variation ID: 1425794). This variant has not been reported in the literature in individuals affected with USB1-related conditions. This variant is present in population databases (rs780752842, gnomAD 0.007%). This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 76 of the USB1 protein (p.His76Asn). |
| Ambry Genetics | RCV004686702 | SCV005181296 | uncertain significance | Inborn genetic diseases | 2024-10-04 | criteria provided, single submitter | clinical testing | The p.H76N variant (also known as c.226C>A), located in coding exon 2 of the USB1 gene, results from a C to A substitution at nucleotide position 226. The histidine at codon 76 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |