Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000693633 | SCV000821509 | uncertain significance | BAP1-related tumor predisposition syndrome | 2022-01-12 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 336 of the BAP1 protein (p.Val336Ala). 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. 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. ClinVar contains an entry for this variant (Variation ID: 572289). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. This variant is present in population databases (rs749108952, gnomAD 0.003%). |
| Ambry Genetics | RCV004025159 | SCV005023226 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-13 | criteria provided, single submitter | clinical testing | The p.V336A variant (also known as c.1007T>C), located in coding exon 11 of the BAP1 gene, results from a T to C substitution at nucleotide position 1007. The valine at codon 336 is replaced by alanine, 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 alteration remains unclear. |