Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000484127 | SCV000544095 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000484127 | SCV000570767 | uncertain significance | not provided | 2023-09-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals colon or breast cancer (Kang et al., 2015; Guindalini et al., 2022); This variant is associated with the following publications: (PMID: Krishnan[Abstract], 20951805, 35264596, 25110875) |
Mendelics | RCV000709274 | SCV000838705 | uncertain significance | Familial colorectal cancer | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002268066 | SCV002550175 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
St. |
RCV001086803 | SCV004031253 | uncertain significance | Colorectal cancer, susceptibility to, 12 | 2023-07-27 | criteria provided, single submitter | clinical testing | The POLE c.1645T>C (p.Ser549Pro) missense change has a maximum subpopulation frequency of 0.085% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in the literature in individuals with POLE-related disease. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance. |