Back to Posters

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

Session:
#2470
Date:
Wednesday, Oct 18, 2017 3:00pm – 4:00pm
Conference:
ASHG 2017
Authors:
Adam Chamberlin, Elaine C. Weltmer, Heather Newman, Igor Petrik, Jade Tinker, Jing Wang, Rachid Karam, PhD, Rhonda Lassiter, Shoji Ichikawa, Tiffiney Carter, Tina Pesaran, MA, MS, CGC

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.
Abstract Poster