Analyzing a Variant of Uncertain Significance (VUS) - Jolan Walter, MD, PhD

Dr Jolan Walter is the division chief of Pediatric Allergy and Immunology at Johns Hopkins All Children’s Hospital and a professor at the University of South Florida. In this video, Dr Walter describes how to analyze VUS genetic test results and walks through a sample report analysis. APD-GLO-2022-0112 00:00 What is a VUS 01:25 General criteria to determine variant pathogenicity 01:56 Review of genetic test report 03:30 Example VUS: APDS 03:56 Type and location of the variant 06:23 Variant frequency 07:33 Reports from the literature 08:59 Impact of variant on protein structure and function 10:47 The clinical picture 12:04 Conclusions