Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461055 | SCV000552647 | uncertain significance | Familial adenomatous polyposis 1 | 2016-05-26 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with leucine at codon 1811 of the APC protein (p.Ser1811Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with familial adenomatous polyposis (PMID: 26163615). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Counsyl | RCV000461055 | SCV000786610 | uncertain significance | Familial adenomatous polyposis 1 | 2018-06-07 | criteria provided, single submitter | clinical testing | |
Color | RCV000775725 | SCV000910147 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-17 | criteria provided, single submitter | clinical testing |