Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002230309 | SCV000541104 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2022-04-15 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 956 of the BUB1B protein (p.Ile956Val). This variant is present in population databases (rs775844666, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 403752). 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. 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 | RCV002436375 | SCV002749836 | uncertain significance | Inborn genetic diseases | 2023-09-15 | criteria provided, single submitter | clinical testing | The p.I956V variant (also known as c.2866A>G), located in coding exon 22 of the BUB1B gene, results from an A to G substitution at nucleotide position 2866. The isoleucine at codon 956 is replaced by valine, 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. |