Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025742 | SCV001187989 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-03-21 | criteria provided, single submitter | clinical testing | The p.Q2288R variant (also known as c.6863A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 6863. The glutamine at codon 2288 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is 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. |