Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001027387 | SCV001189932 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-04-12 | criteria provided, single submitter | clinical testing | The c.830_836dupACTGTGG pathogenic mutation, located in coding exon 6 of the STK11 gene, results from a duplication of ACTGTGG at nucleotide position 830, causing a translational frameshift with a predicted alternate stop codon (p.P280Lfs*7). 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. |