Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010742 | SCV001170981 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-06-06 | criteria provided, single submitter | clinical testing | The c.1283_1293del11 pathogenic mutation, located in coding exon 9 of the APC gene, results from a deletion of 11 nucleotides at nucleotide positions 1283 to 1293, causing a translational frameshift with a predicted alternate stop codon (p.E428Gfs*12). This alteration has been previously reported in Israeli and French polyposis cohorts (Lagarde A et al. J. Med. Genet., 2010 Oct;47:721-2; Gavert N et al. Hum. Mutat., 2002 Jun;19:664). 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. |