Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001309186 | SCV001498676 | uncertain significance | BAP1-related tumor predisposition syndrome | 2021-02-28 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 570 of the BAP1 protein (p.Leu570Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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 | RCV002402869 | SCV002712905 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-09 | criteria provided, single submitter | clinical testing | The p.L570P variant (also known as c.1709T>C), located in coding exon 13 of the BAP1 gene, results from a T to C substitution at nucleotide position 1709. The leucine at codon 570 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |