Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025601 | SCV001187823 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-20 | criteria provided, single submitter | clinical testing | The p.S2247F variant (also known as c.6740C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 6740. The serine at codon 2247 is replaced by phenylalanine, an amino acid with highly dissimilar properties. In one study, this alteration was identified in 1/26 Chinese patients with triple negative breast cancer, co-occurring with a pathogenic BRCA1 mutation; however, no features of familial adenomatous polyposis were mentioned by the study authors (Liu X et al. Cancer Med, 2017 03;6:547-554). 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. |