Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004563810 | SCV001560798 | uncertain significance | Familial adenomatous polyposis 1 | 2020-02-20 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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). This sequence change replaces proline with arginine at codon 1432 of the APC protein (p.Pro1432Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. |
| Ambry Genetics | RCV004945075 | SCV005467067 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-09-26 | criteria provided, single submitter | clinical testing | The p.P1432R variant (also known as c.4295C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 4295. The proline at codon 1432 is replaced by arginine, 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. Based on the available evidence, the clinical significance of this variant remains unclear. |