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Application of deep mutational scanning data for MLH1 variant interpretation

Date:
Thursday, Nov 2, 2023 3:00pm – 5:00pm
Conference:
ASHG 2023
Authors:
Anthony Scott, Ashley P.L. Marsh, Bala Burugula, Felicia Hernandez, Grace Clark, Jacob Kitzman, Matthew Varga, Rachid Karam, PhD, Sajini Jayakody, Sami Belhadj, Xiaoyan Jia

Presenting Author: Anthony Scott (University of Michigan)

Take home points: 

  1. Investigators found high correlation between DMS functional scoring and clinical classifications wherein variants with abnormal DMS-function were typically classified as pathogenic and normal DMS-function were classified as benign.
  2. Improved Lynch Syndrome Interpretation: Integrating DMS data into clinical databases enabled precise assessment of MLH1 missense variants. DMS-guided reclassification for uncertain variants improves genetic testing accuracy and clinical decision-making.
  3. Overall demonstrated a successful validation of saturation scale functional testing via DMS to provide evidence for improved MLH1 variant interpretation.
Poster Abstract