Video: Analyzing a Variant of Uncertain Significance – Dr Jolan Walter

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.

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

 

APD-US-2022-0118