Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000566973 | SCV000667706 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-02-22 | criteria provided, single submitter | clinical testing | The p.Q1529K variant (also known as c.4585C>A), located in coding exon 15 of the APC gene, results from a C to A substitution at nucleotide position 4585. The glutamine at codon 1529 is replaced by lysine, an amino acid with similar 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. |