Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018394 | SCV001179628 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-07-18 | criteria provided, single submitter | clinical testing | The c.3060delA pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 3060, causing a translational frameshift with a predicted alternate stop codon (p.E1020Dfs*2). 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. |