Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003766556 | SCV000552471 | uncertain significance | Familial adenomatous polyposis 1 | 2016-09-21 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a APC-related disease. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces proline with threonine at codon 1514 of the APC protein (p.Pro1514Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. |
| Ambry Genetics | RCV001022674 | SCV001184434 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-07 | criteria provided, single submitter | clinical testing | The p.P1514T variant (also known as c.4540C>A), located in coding exon 15 of the APC gene, results from a C to A substitution at nucleotide position 4540. The proline at codon 1514 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |