Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002604042 | SCV002952805 | uncertain significance | BAP1-related tumor predisposition syndrome | 2022-08-05 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 599 of the BAP1 protein (p.Val599Met). 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 | RCV003167485 | SCV003854278 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-15 | criteria provided, single submitter | clinical testing | The p.V599M variant (also known as c.1795G>A), located in coding exon 14 of the BAP1 gene, results from a G to A substitution at nucleotide position 1795. The valine at codon 599 is replaced by methionine, 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. |