Session # PB5158

The ClinGen-InSiGHT MUTYH Variant Curation Expert Panel: Lessons learned and a call to action

Presenting Author: Emily Nadeau (Unniversity of Vermont)

Take home points: 

1. The MUTYH subcommittee of the ClinGen-InSiGHT Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel has developed gene-specific recommendations for ACMG variant classification, which will soon be released.
2. Most importantly, discrepancies between transcript usage, phenotypic descriptions of affected individuals, and functional studies were addressed and resolved.

• Authors: Emily AW Nadeau; Cristina Rioja; Marta Pineda; Monica Thet; Andreas Laner; Daniel Buchanan; Jesús del Valle; Ester Borras; Felicia Hernandez; Chris Heinen; Ian Frayling; Khalid Mahmood; Matthew Johnson; Peter Georgeson; Rhianna Urban; Sheila David; Susan Farrington; Thomas van Overeem Hansen; Wei Shen; Xuemei Shi; Sherry Yin; Deborah Ritter; Pilar Mur; Isabel Quintana; Andrew Latchford; Finlay Macrae; Sean Tavtigian; Gabriel Capellá; Marc Greenblat
• Conference: ASHG 2023
• Date: Thursday, Nov 02, 2023 3:00pm - 5:00pm