Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000221391 | SCV000274496 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Gene |
RCV000521141 | SCV000616825 | uncertain significance | not provided | 2023-01-31 | criteria provided, single submitter | clinical testing | 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 |
| Labcorp Genetics |
RCV000629994 | SCV000750950 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2024-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 452 of the PMS2 protein (p.Gly452Ser). This variant is present in population databases (rs569947936, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 230823). Invitae Evidence Modeling incorporating data from in vitro experimental studies (internal data) indicates that this missense variant is not expected to disrupt PMS2 function with a negative predictive value of 95%. 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. |
| Color Diagnostics, |
RCV000221391 | SCV000903598 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-03 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001731444 | SCV001983512 | uncertain significance | not specified | 2021-09-25 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000521141 | SCV002046492 | uncertain significance | not provided | 2020-12-08 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV003997861 | SCV004844238 | likely benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing |