Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000492583 | SCV000580752 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-09-16 | criteria provided, single submitter | clinical testing | The p.E280* pathogenic mutation (also known as c.838G>T), located in coding exon 5 of the FLCN gene, results from a G to T substitution at nucleotide position 838. This changes the amino acid from a glutamic acid to a stop codon within coding exon 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. |