Reclassifying variations of unknown significance in diseases affecting Saudi Arabia's population reveal new associations.

ABSTRACT: Introduction: Physicians face diagnostic dilemmas upon reports indicating disease variants of unknown significance (VUS). The most puzzling cases are patients with rare diseases, where finding another matched genotype and phenotype to associate their results is challenging. This study aims to prove the value of updating patient files with new classifications, potentially leading to better assessment and prevention. Methodology: We recruited retrospective phenotypic and genotypic data from King Saud Medical City, Riyadh, Kingdom of Saudi Arabia. Between September 2020 and December 2021, 1,080 patients' genetic profiles were tested in a College of American Pathologists accredited laboratory. We excluded all confirmed pathogenic variants, likely pathogenic variants and copy numb

SUBMITTER: Al Eissa MM 

PROVIDER: S-EPMC10646566 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature