Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021995 | SCV001183682 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-03-08 | criteria provided, single submitter | clinical testing | The c.4179dupT pathogenic mutation, located in coding exon 15 of the APC gene, results from a duplication of T at nucleotide position 4179, causing a translational frameshift with a predicted alternate stop codon (p.D1394*). 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. |