Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000689476 | SCV000817129 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2023-08-02 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 568963). This variant has not been reported in the literature in individuals affected with POLD1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 109 of the POLD1 protein (p.Gln109Glu). |
| Gene |
RCV001527351 | SCV001738325 | uncertain significance | not provided | 2024-02-20 | 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 in germline to our knowledge; This variant is associated with the following publications: (PMID: 29056344) |
| Breakthrough Genomics, |
RCV001527351 | SCV005194769 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
| Fulgent Genetics, |
RCV005021060 | SCV005650278 | uncertain significance | Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120 | 2024-01-02 | criteria provided, single submitter | clinical testing |