Variant reclassification in a large cardiogenetic testing cohort: The importance of disease specific variant classification criteria  

Date:
Thursday, Mar 16, 2023 10:30am – 12:30pm
Conference:
ACMG 2023
Authors:
Meghan Towne, MS, CGC; Melissa Holman, MS, CGC; Margo Gallegos, MS, CGC; Heather Workman, MS, CGC; Amybeth Weaver, MS, CGC; Heather Zimmermann PhD

-95% of VUSs in this study were reclassified to LB/B
-Further emphasizes that patient management decisions should not be made based on a reported VUS and education on this point is crucial with more non-genetics providers order genetic testing 
-Many of the reclassifications were due to our laboratory’s CVD-tailored variant classification criteria and our continual work to improve variant classification tools
-Gene-disease-specific classification criteria can optimize accurate variant classification and decrease VUS rates