Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003765010 | SCV000211901 | uncertain significance | Familial adenomatous polyposis 1 | 2022-07-24 | criteria provided, single submitter | clinical testing | 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 C0"). 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. ClinVar contains an entry for this variant (Variation ID: 183061). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (rs73220015, gnomAD 0.007%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1540 of the APC protein (p.Glu1540Gln). |
| Ambry Genetics | RCV002336375 | SCV002636587 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-10 | criteria provided, single submitter | clinical testing | The p.E1540Q variant (also known as c.4618G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 4618. The glutamic acid at codon 1540 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |