Clinical Domain Working Groups

DICER1 encodes a protein essential for the processing of microRNA. Pathogenic germline variation in DICER1 gives rise to an autosomal dominant tumor-predisposition disorder that increases the risk for a variety of benign and malignant tumors, as well as multi-nodular goiter and macrocephaly. DICER1 is one of about 12 known microRNA-processing genes, most of which have no known human phenotype. One known exception is DROSHA, which is associated with Wilms tumor.

The DICER1 and miRNA-Processing Gene Variant Expert Panel will curate clinically relevant DICER1 variants using the specified classification rules developed by the group. After interpreting variants using these specified guidelines, the group will make their final interpretations publicly available through ClinVar. A similar process will be applied to other clinically relevant genes involved with miRNA processing, such as DROSHA.