Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000701812 | SCV000830631 | uncertain significance | BAP1-related tumor predisposition syndrome | 2018-06-13 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with BAP1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 439 of the BAP1 protein (p.Val439Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. 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"). 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 | RCV002386248 | SCV002691705 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-11-27 | criteria provided, single submitter | clinical testing | The p.V439L variant (also known as c.1315G>T), located in coding exon 13 of the BAP1 gene, results from a G to T substitution at nucleotide position 1315. The valine at codon 439 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |