Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465350 | SCV000553971 | uncertain significance | BAP1-related tumor predisposition syndrome | 2021-09-15 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with kidney cancer (Invitae). It has also been observed to segregate with disease in related individuals. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 17 of the BAP1 protein (p.Leu17Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |