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:
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.
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