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

Описание к видео 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

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