Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.

ABSTRACT: Precision medicine starts with a precision diagnosis. Yet up to 80% of cases of monogenic diabetes, a form of diabetes characterized by mutations in a single gene, are either overlooked or misdiagnosed. A genetic test for monogenic diabetes does not always lead to a precise diagnosis, as novel variants are often classified as variants of unknown significance. Variant interpretation requires collation of a framework of evidence, including population, computational, and segregation data, and can be assisted by functional analysis. The inclusion of functional data can be challenging, depending on the number of benign and pathogenic variants available for benchmarking assays. Glucokinase is the rate-limiting step for glucose metabolism in the pancreatic beta-cell and governs the threshold for

SUBMITTER: Rajesh V 

PROVIDER: S-EPMC12785307 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature