Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003770726 | SCV001511345 | uncertain significance | Familial adenomatous polyposis 1 | 2020-10-15 | 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 tryptophan with arginine at codon 2101 of the APC protein (p.Trp2101Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. |
| Ambry Genetics | RCV002357150 | SCV002655987 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-11 | criteria provided, single submitter | clinical testing | The p.W2101R variant (also known as c.6301T>C), located in coding exon 15 of the APC gene, results from a T to C substitution at nucleotide position 6301. The tryptophan at codon 2101 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |