Analysis of 245,368 diverse individuals in NIH All of Us Program finds incomplete penetrance of VEXAS ‐defining UBA1 p.Met41Leu somatic variant

ConclusionWe report the largest cohort to date of persons with the VEXAS-associated p.Met41Leu somatic variant. This cohort differed substantially from reported cohorts of patients with clinical VEXAS, having a higher proportion of persons who were young, female, and of diverse ancestry. Variant allele fractions were lower than reported in clinical VEXAS cohorts and bioinformatic analysis detected no clinical manifestations of VEXAS. Thus, theUBA1 p.Met41Leu somatic variant displayed incomplete penetrance for VEXAS. Further study is needed to determine the natural history of VEXAS-associated somatic variants in the pre-disease phase.
Source: Arthritis and Rheumatology - Category: Rheumatology Authors: Tags: Brief Report Source Type: research