A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report

This case report describes a novel WFS1 missense variant of uncertain significance (p.Arg517Pro) identified in a patient with early-onset diabetes. This finding contributes to the growing catalog of rare WFS1 variants and highlights the interpretive challenges they pose. It suggests that WFS1 could be considered in the genetic evaluation of selected cases of early-onset diabetes, even in the absence of full syndromic features. Prospective monitoring of asymptomatic carriers of similar variants may be warranted, pending further evidence to clarify their clinical significance.