Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002235057 | SCV000955549 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2022-03-19 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 658305). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is present in population databases (rs751509832, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 931 of the BUB1B protein (p.Arg931Gln). |
Institute for Clinical Genetics, |
RCV003238237 | SCV002010626 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433979 | SCV002748310 | uncertain significance | Inborn genetic diseases | 2023-07-23 | criteria provided, single submitter | clinical testing | The p.R931Q variant (also known as c.2792G>A), located in coding exon 21 of the BUB1B gene, results from a G to A substitution at nucleotide position 2792. The arginine at codon 931 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |