Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000566762 | SCV000667440 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-19 | criteria provided, single submitter | clinical testing | The p.G2383R variant (also known as c.7147G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 7147. The glycine at codon 2383 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV003537115 | SCV000825945 | uncertain significance | Familial adenomatous polyposis 1 | 2023-08-11 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2383 of the APC protein (p.Gly2383Arg). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 482282). 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 APC protein function. 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800783 | SCV001470116 | uncertain significance | not specified | 2020-08-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001284366 | SCV001790424 | uncertain significance | not provided | 2023-08-17 | 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; Observed in an individual with an advanced cancer (Mandelker et al., 2017); This variant is associated with the following publications: (PMID: 18199528, 28873162) |
Sema4, |
RCV000566762 | SCV002527457 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-02 | criteria provided, single submitter | curation | |
Baylor Genetics | RCV002526847 | SCV004202243 | uncertain significance | Familial adenomatous polyposis 1 | 2023-07-03 | criteria provided, single submitter | clinical testing |