Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000629736 | SCV000750692 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2021-11-08 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PMS2 protein function. ClinVar contains an entry for this variant (Variation ID: 525621). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 419 of the PMS2 protein (p.Arg419Gly). |
| Color Diagnostics, |
RCV001179137 | SCV001343745 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-06 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV002284413 | SCV002574372 | uncertain significance | not provided | 2022-03-16 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |