Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000461343 | SCV000552515 | uncertain significance | Familial adenomatous polyposis 1 | 2018-12-28 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with phenylalanine at codon 959 of the APC protein (p.Ser959Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 28202063). ClinVar contains an entry for this variant (Variation ID: 411384). 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: "Benign"; Align-GVGD: "Class C0"). 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758724 | SCV000887512 | uncertain significance | not provided | 2018-05-25 | criteria provided, single submitter | clinical testing |