Session # 2470W ‡

Attacking a VUS from multiple angles: An integrated and functional approach for reclassifying variants of uncertain significance.

Reviewers' Choice Abstract

• Large multi-gene panels are essential for the molecular diagnosis of rare neurodevelopmental disorders; however they can also result in numerous variants of uncertain significance.
• Here we describe three effective approaches for reducing VUS rates in neurology MGPT.

• Combining parental co-segregation studies, protein structural analysis, and RNA functional splicing assays with additional strong lines of evidence, leads to a significant decrease in VUS rates.

• Authors: Rhonda Lassiter; Jing Wang; Elaine C. Weltmer; Jade Tinker; Heather Newman; Tiffiney Carter; Shoji Ichikawa; Adam Chamberlin; Igor Petrik; Rachid Karam; Tina Pesaran
• Conference: ASHG 2017
• Date: Wednesday, Oct 18, 2017 3:00pm - 4:00pm