Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002444236 | SCV002753685 | uncertain significance | Inborn genetic diseases | 2022-10-24 | criteria provided, single submitter | clinical testing | The p.G1021A variant (also known as c.3062G>C), located in coding exon 23 of the BUB1B gene, results from a G to C substitution at nucleotide position 3062. The glycine at codon 1021 is replaced by alanine, an amino acid with 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. |
Labcorp Genetics |
RCV003103023 | SCV003282078 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2022-05-18 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1021 of the BUB1B protein (p.Gly1021Ala). 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. |