Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204519 | SCV000261782 | uncertain significance | Familial cancer of breast | 2023-09-17 | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 220879). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 65 of the CHEK2 protein (p.Thr65Arg). |
Gene |
RCV000520409 | SCV000616676 | uncertain significance | not provided | 2023-06-13 | 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: 11733767, 22114986) |
Color Diagnostics, |
RCV000777678 | SCV000913605 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-07-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000777678 | SCV001174340 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-16 | criteria provided, single submitter | clinical testing | The p.T65R variant (also known as c.194C>G), located in coding exon 1 of the CHEK2 gene, results from a C to G substitution at nucleotide position 194. The threonine at codon 65 is replaced by arginine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000520409 | SCV001470501 | uncertain significance | not provided | 2020-05-22 | criteria provided, single submitter | clinical testing |