Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000776254 | SCV000911507 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000776254 | SCV001182510 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-27 | criteria provided, single submitter | clinical testing | The p.R1239K variant (also known as c.3716G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 3716. The arginine at codon 1239 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is highly 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 | RCV003653259 | SCV002194100 | uncertain significance | Familial adenomatous polyposis 1 | 2023-11-21 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1239 of the APC protein (p.Arg1239Lys). This variant is present in population databases (rs754067085, gnomAD 0.006%). 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: 559947). 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 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. |
Gene |
RCV002462012 | SCV002757625 | uncertain significance | not provided | 2022-11-22 | 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; Identified as a candidate variant in at least one individual with congenital heart disease (Zhou et al., 2021); This variant is associated with the following publications: (PMID: 35141295) |
Baylor Genetics | RCV002544686 | SCV004205349 | uncertain significance | Familial adenomatous polyposis 1 | 2023-06-14 | criteria provided, single submitter | clinical testing | |
3DMed Clinical Laboratory Inc | RCV000677743 | SCV000803899 | uncertain significance | Colon cancer | 2017-04-12 | no assertion criteria provided | clinical testing | |
3DMed Clinical Laboratory Inc | RCV000677744 | SCV000803900 | uncertain significance | Neoplasm of the liver | 2017-04-12 | no assertion criteria provided | clinical testing |