Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018288 | SCV001179504 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-05-10 | criteria provided, single submitter | clinical testing | The c.3045_3054del10 pathogenic mutation, located in coding exon 18 of the DICER1 gene, results from a deletion of 10 nucleotides at nucleotide positions 3045 to 3054, causing a translational frameshift with a predicted alternate stop codon (p.S1015Rfs*48). 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. |