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

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