Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000574913 | SCV000673465 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-12-08 | criteria provided, single submitter | clinical testing | The c.1153delC pathogenic mutation, located in coding exon 7 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 1153, causing a translational frameshift with a predicted alternate stop codon (p.Q385Sfs*83). 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. |