Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018357 | SCV001179583 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-09-26 | criteria provided, single submitter | clinical testing | The p.E1020* pathogenic mutation (also known as c.3058G>T), located in coding exon 15 of the APC gene, results from a G to T substitution at nucleotide position 3058. This changes the amino acid from a glutamic acid to a stop codon within coding exon 15. This mutation has been reported in one Italian individual with a diagnosis of familial adenomatous polyposis (FAP) (Giarola M et al. Hum. Mutat., 1999;13:116-23). In addition to the clinical data presented in the literature, 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. |