Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001974220 | SCV002265832 | uncertain significance | not provided | 2021-10-10 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with alanine at codon 200 of the USB1 protein (p.Thr200Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs758357702, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with USB1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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. |
| Ambry Genetics | RCV005288667 | SCV005959181 | uncertain significance | Inborn genetic diseases | 2024-12-20 | criteria provided, single submitter | clinical testing | The p.T200A variant (also known as c.598A>G), located in coding exon 5 of the USB1 gene, results from an A to G substitution at nucleotide position 598. The threonine at codon 200 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |