Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001027261 | SCV001189792 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-16 | criteria provided, single submitter | clinical testing | The p.P2731S variant (also known as c.8191C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 8191. The proline at codon 2731 is replaced by serine, an amino acid with 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. |