AACE Endocrinology and Diabetes
Functional Characterization of an HNF1A Variant in Coinherited GCK-MODY
By Jenny Qian Dai-Ju, Almoatazbellah Idriss, Yang Cao and 4 others.
Abstract
We report a case of coinherited pathogenic GCK variant (c.1364T>A, p.Val455Glu) and an HNF1A variant of uncertain significance (c.1610C>T, p.Thr537Met). Functional studies suggest HNF1A-T537M is likely a benign polymorphism. The phenotype is consistent with GCK-MODY and requires no treatment, underscoring the importance of functional validation of VUS.
Keywords
- Pancreatic function and diabetes
- Open access
Source
Published in AACE Endocrinology and Diabetes. The abstract is shown as published and remains the work of its authors; read the full article at the source.
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