Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491893 | SCV000579900 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-05-19 | criteria provided, single submitter | clinical testing | The c.3734dupA pathogenic mutation, located in coding exon 15 of the APC gene, results from a duplication of A at nucleotide position 3734, causing a translational frameshift with a predicted alternate stop codon. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |