Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001366474 | SCV001562776 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2020-08-07 | 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces valine with alanine at codon 1038 of the BUB1B protein (p.Val1038Ala). The valine residue is weakly conserved and there is a small physicochemical difference between valine and alanine. |
| Ambry Genetics | RCV002322341 | SCV002607318 | uncertain significance | Inborn genetic diseases | 2023-08-06 | criteria provided, single submitter | clinical testing | The p.V1038A variant (also known as c.3113T>C), located in coding exon 23 of the BUB1B gene, results from a T to C substitution at nucleotide position 3113. The valine at codon 1038 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. |