Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001317322 | SCV001507979 | uncertain significance | Oligodontia-cancer predisposition syndrome | 2023-03-31 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 5 of the AXIN2 protein (p.Met5Lys). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with AXIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1018074). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. 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. |
| Ambry Genetics | RCV002395676 | SCV002701456 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-11 | criteria provided, single submitter | clinical testing | The p.M5K variant (also known as c.14T>A), located in coding exon 1 of the AXIN2 gene, results from a T to A substitution at nucleotide position 14. The methionine at codon 5 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly 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 | RCV003473856 | SCV004213135 | uncertain significance | Colorectal cancer | 2023-05-08 | criteria provided, single submitter | clinical testing |