Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000696052 | SCV000824597 | uncertain significance | Oligodontia-cancer predisposition syndrome | 2024-11-06 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 158 of the AXIN2 protein (p.Arg158Thr). This variant is present in population databases (rs748730853, gnomAD 0.002%). 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: 574189). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt AXIN2 protein function with a negative predictive value of 80%. 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. |
| Gene |
RCV002274089 | SCV002559450 | uncertain significance | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15735151) |
| Ambry Genetics | RCV002334319 | SCV002635948 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-02 | criteria provided, single submitter | clinical testing | The p.R158T variant (also known as c.473G>C), located in coding exon 1 of the AXIN2 gene, results from a G to C substitution at nucleotide position 473. The arginine at codon 158 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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 | RCV004569332 | SCV005053157 | uncertain significance | Colorectal cancer | 2024-03-05 | criteria provided, single submitter | clinical testing |