Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000508419 | SCV000600116 | uncertain significance | not specified | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003535801 | SCV000828958 | uncertain significance | Familial adenomatous polyposis 1 | 2022-11-23 | criteria provided, single submitter | clinical testing | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function. ClinVar contains an entry for this variant (Variation ID: 438882). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (rs777788406, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1811 of the APC protein (p.Ser1811Pro). |