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

Date:
Thursday, Nov 2, 2023 3:00pm – 5:00pm
Conference:
ASHG 2023
Authors:
Felicia Hernandez, Emily AW Nadeau, Cristina Rioja, Marta Pineda, Monica Thet, Andreas Laner, Daniel Buchanan, Jesús del Valle, Ester Borras, 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

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.
Abstract Poster