Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000573063 | SCV000675935 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-04-19 | criteria provided, single submitter | clinical testing | The c.4770delA pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 4770, causing a translational frameshift with a predicted alternate stop codon (p.A1591Qfs*59). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. |