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A SYSTEMATIC FRAMEWORK FOR THE INTERPRETATION OF COPY NUMBER VARIANTS

March 15, 2019 | (12.00 PM)
USA (United States of America)
Guidelines for the interpretation of postnatal constitutional copy number variants (CNV) were initially published by ACMG in 2011.  While they provide guidance on types of evidence to consider, there are no specific recommendations regarding the relative importance of each in the overall evaluation.  In an effort to provide more specific guidance to users regarding the weights of particular pieces of evidence (in hope of increasing inter-laboratory consistency), as well as to align the updated recommendations where possible with the sequence variant interpretation guidelines published by ACMG/AMP in 2015​, ACMG and the Clinical Genome Resource (ClinGen) have formed a working group to update the existing CNV interpretation guidelines.  Proposed updates to the current guidelines will be reviewed, including the formal adoption of the 5-tier classification system, the recommendation to uncouple the concept of variant classification from clinical interpretation, and the incorporation of a quantitative, evidence-based evaluation framework for copy number gains and losses.