Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002018575 | SCV002302936 | uncertain significance | BAP1-related tumor predisposition syndrome | 2021-03-04 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine with valine at codon 115 of the BAP1 protein (p.Met115Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BAP1-related conditions. 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. 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 | RCV002458996 | SCV002615196 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-28 | criteria provided, single submitter | clinical testing | The p.M115V variant (also known as c.343A>G), located in coding exon 5 of the BAP1 gene, results from an A to G substitution at nucleotide position 343. The methionine at codon 115 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. |