Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004561610 | SCV000647695 | uncertain significance | Familial adenomatous polyposis 1 | 2020-06-03 | 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 glycine with aspartic acid at codon 2383 of the APC protein (p.Gly2383Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. |
| Ambry Genetics | RCV004024129 | SCV005034361 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-02-24 | criteria provided, single submitter | clinical testing | The p.G2383D variant (also known as c.7148G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 7148. The glycine at codon 2383 is replaced by aspartic acid, an amino acid with similar 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 alteration remains unclear. |