Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002242073 | SCV001510650 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2020-05-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with proline at codon 199 of the BUB1B protein (p.Arg199Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BUB1B-related conditions. This variant is not present in population databases (ExAC no frequency). |
| Ambry Genetics | RCV002357145 | SCV002658357 | uncertain significance | Inborn genetic diseases | 2022-07-15 | criteria provided, single submitter | clinical testing | The p.R199P variant (also known as c.596G>C), located in coding exon 6 of the BUB1B gene, results from a G to C substitution at nucleotide position 596. The arginine at codon 199 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |