Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001929820 | SCV002133060 | uncertain significance | not provided | 2021-01-14 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with USB1-related conditions. This sequence change replaces arginine with proline at codon 72 of the USB1 protein (p.Arg72Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs372917091, ExAC 0.02%). 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: "Probably 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 | RCV005288578 | SCV005959178 | uncertain significance | Inborn genetic diseases | 2024-12-15 | criteria provided, single submitter | clinical testing | The p.R72P variant (also known as c.215G>C), located in coding exon 2 of the USB1 gene, results from a G to C substitution at nucleotide position 215. The arginine at codon 72 is replaced by proline, an amino acid with dissimilar 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. |