Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010979 | SCV001171250 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-10-08 | criteria provided, single submitter | clinical testing | The c.1346delC pathogenic mutation, located in coding exon 10 of the APC gene, results from a deletion of one nucleotide at nucleotide position 1346, causing a translational frameshift with a predicted alternate stop codon (p.A449Vfs*5). 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. |