Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010758 | SCV001170998 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-01 | criteria provided, single submitter | clinical testing | The p.P429S variant (also known as c.1285C>T), located in coding exon 9 of the APC gene, results from a C to T substitution at nucleotide position 1285. The proline at codon 429 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly 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. |