Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017555 | SCV001178648 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-12-12 | criteria provided, single submitter | clinical testing | The p.V2777F variant (also known as c.8329G>T), located in coding exon 15 of the APC gene, results from a G to T substitution at nucleotide position 8329. The valine at codon 2777 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |