Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000662519 | SCV000785068 | uncertain significance | Familial adenomatous polyposis 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003650363 | SCV002202283 | uncertain significance | Familial adenomatous polyposis 1 | 2023-05-08 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2622 of the APC protein (p.Pro2622Leu). This variant is present in population databases (rs267600320, gnomAD 0.0009%). 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: 75619). This variant has not been reported in the literature in individuals affected with APC-related conditions. |
Myriad Genetics, |
RCV000662519 | SCV004018816 | uncertain significance | Familial adenomatous polyposis 1 | 2023-02-22 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |