Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004571668 | SCV002211373 | uncertain significance | Familial adenomatous polyposis 1 | 2021-09-20 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with isoleucine at codon 306 of the APC protein (p.Ser306Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. 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 disruptive. 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. |
| Ambry Genetics | RCV004043060 | SCV005035938 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-12-22 | criteria provided, single submitter | clinical testing | The p.S306I variant (also known as c.917G>T), located in coding exon 8 of the APC gene, results from a G to T substitution at nucleotide position 917. The serine at codon 306 is replaced by isoleucine, an amino acid with dissimilar 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. |