Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001015466 | SCV001176301 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-29 | criteria provided, single submitter | clinical testing | The p.P824S variant (also known as c.2470C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 2470. The proline at codon 824 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003649192 | SCV001546483 | uncertain significance | Familial adenomatous polyposis 1 | 2021-07-22 | criteria provided, single submitter | clinical testing | 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"). 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. This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 821245). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 824 of the APC protein (p.Pro824Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. |