Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003534644 | SCV000824285 | uncertain significance | Familial adenomatous polyposis 1 | 2021-06-11 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with APC-related disease. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 690 of the APC protein (p.Arg690Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. |
| Ambry Genetics | RCV003163197 | SCV003866253 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-05 | criteria provided, single submitter | clinical testing | The p.R690G variant (also known as c.2068A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 2068. The arginine at codon 690 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV002532326 | SCV004203430 | uncertain significance | Familial adenomatous polyposis 1 | 2023-05-26 | criteria provided, single submitter | clinical testing |