Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002240975 | SCV001378527 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2019-09-12 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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). This sequence change replaces arginine with proline at codon 931 of the BUB1B protein (p.Arg931Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline. |
Ambry Genetics | RCV004033693 | SCV005017425 | uncertain significance | Inborn genetic diseases | 2024-01-29 | criteria provided, single submitter | clinical testing | The p.R931P variant (also known as c.2792G>C), located in coding exon 21 of the BUB1B gene, results from a G to C substitution at nucleotide position 2792. The arginine at codon 931 is replaced by proline, an amino acid with dissimilar 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 alteration remains unclear. |