Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002241271 | SCV001390702 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2020-01-16 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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 glutamine with glutamic acid at codon 1028 of the BUB1B protein (p.Gln1028Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. |
| Ambry Genetics | RCV002319676 | SCV002608875 | uncertain significance | Inborn genetic diseases | 2022-09-01 | criteria provided, single submitter | clinical testing | The p.Q1028E variant (also known as c.3082C>G), located in coding exon 23 of the BUB1B gene, results from a C to G substitution at nucleotide position 3082. The glutamine at codon 1028 is replaced by glutamic acid, 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. |