Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002371131 | SCV002672485 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-06 | criteria provided, single submitter | clinical testing | The p.M2419L variant (also known as c.7255A>T), located in coding exon 15 of the APC gene, results from an A to T substitution at nucleotide position 7255. The methionine at codon 2419 is replaced by leucine, an amino acid with highly similar 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. |
| Labcorp Genetics |
RCV004565327 | SCV003497048 | uncertain significance | Familial adenomatous polyposis 1 | 2022-02-04 | 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 affected with APC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2419 of the APC protein (p.Met2419Leu). |
| Baylor Genetics | RCV004565327 | SCV005056430 | uncertain significance | Familial adenomatous polyposis 1 | 2023-12-20 | criteria provided, single submitter | clinical testing |