Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000561148 | SCV000667725 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-03-31 | criteria provided, single submitter | clinical testing | The p.T1258P variant (also known as c.3772A>C), located in coding exon 15 of the APC gene, results from an A to C substitution at nucleotide position 3772. The threonine at codon 1258 is replaced by proline, 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. |