Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003470483 | SCV000552452 | uncertain significance | Familial adenomatous polyposis 1 | 2020-03-01 | criteria provided, single submitter | clinical testing | 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: "Benign"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an APC-related disease. This sequence change replaces serine with cysteine at codon 1820 of the APC protein (p.Ser1820Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. |
Ambry Genetics | RCV002348334 | SCV002649120 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-07 | criteria provided, single submitter | clinical testing | The p.S1820C variant (also known as c.5459C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 5459. The serine at codon 1820 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Baylor Genetics | RCV003470483 | SCV004192116 | uncertain significance | Familial adenomatous polyposis 1 | 2023-09-01 | criteria provided, single submitter | clinical testing |