Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491931 | SCV000579846 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-01-29 | criteria provided, single submitter | clinical testing | The p.E2750K variant (also known as c.8248G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 8248. The glutamic acid at codon 2750 is replaced by lysine, an amino acid with 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. |
Gene |
RCV003318584 | SCV004022875 | uncertain significance | not provided | 2023-01-25 | 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 to our knowledge; This variant is associated with the following publications: (PMID: 18199528) |