Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004562069 | SCV001410213 | uncertain significance | Familial adenomatous polyposis 1 | 2020-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with threonine at codon 2825 of the APC protein (p.Ser2825Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with APC-related conditions. This variant is not present in population databases (ExAC no frequency). |
| Ambry Genetics | RCV003284100 | SCV004005233 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-02 | criteria provided, single submitter | clinical testing | The p.S2825T variant (also known as c.8473T>A), located in coding exon 15 of the APC gene, results from a T to A substitution at nucleotide position 8473. The serine at codon 2825 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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. |