Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pathology and Laboratory Medicine, |
RCV000499734 | SCV000591179 | pathogenic | Familial multiple polyposis syndrome | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002341179 | SCV002639089 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-05-19 | criteria provided, single submitter | clinical testing | The p.E1576* pathogenic mutation (also known as c.4726G>T), located in coding exon 15 of the APC gene, results from a G to T substitution at nucleotide position 4726. This changes the amino acid from a glutamic acid to a stop codon within coding exon 15. 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. |