Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000584035 | SCV000686954 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000584035 | SCV002623603 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-28 | criteria provided, single submitter | clinical testing | The p.A1283P variant (also known as c.3847G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 3847. The alanine at codon 1283 is replaced by proline, an amino acid with highly similar properties. This amino acid position is well 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. |