Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001371609 | SCV001568180 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2020-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with asparagine at codon 233 of the BUB1B protein (p.Lys233Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BUB1B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 | RCV005318785 | SCV005973851 | uncertain significance | Inborn genetic diseases | 2025-02-08 | criteria provided, single submitter | clinical testing | The p.K233N variant (also known as c.699A>C), located in coding exon 6 of the BUB1B gene, results from an A to C substitution at nucleotide position 699. The lysine at codon 233 is replaced by asparagine, 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. Based on the available evidence, the clinical significance of this variant remains unclear. |