Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

ABSTRACT: Germline pathogenic variants in DICER1 predispose individuals to develop a variety of benign and malignant tumors. Accurate variant curation and classification is essential for reliable diagnosis of DICER1-related tumor predisposition and identification of individuals who may benefit from surveillance. Since 2015, most labs have followed the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) sequence variant classification guidelines for DICER1 germline variant curation. However, these general guidelines lack gene-specific nuances and leave room for subjectivity. Consequently, a group of DICER1 experts joined ClinGen to form the DICER1 and miRNA-Processing Genes Variant Curation Expert Panel (VCEP), to

SUBMITTER: Hatton JN 

PROVIDER: S-EPMC10713350 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature