No nonsense: When a premature termination is not what it appears

Date:
Friday, Nov 11, 2022 8:00am – 4:30pm
Conference:
CGA-IGC 2022
Authors:
Marcy Richardson, Nelly Abualkheir, Elizabeth Chao, Jamie Weyandt, PhD, Colin Young, PhD

1. DNA/RNA paired testing has added benefit for variant interpreation and patient management
2. Splice predictors and data (when available) should always be considered even when evaluating LoF alterations to avoid inccorect de facto classification
3. APC is challenging to interpret given the not-infrequent presentation of attenuated disease but further investigation is still warranted when multiple patients present without disease