Biochemical characterization of the FH variant p.Lys414Glu reveals loss of enzymatic function and disrupted multimerization
Abstract
) complicate the diagnosis of hereditary leiomyomatosis and renal cell carcinoma (HLRCC). The FH VUS p.Lys414Glu has been reported in patients with HLRCC features but additional evidence is needed to support an interpretation of pathogenicity. Here we show that p.Lys414Glu is completely inactive, supporting a classification of pathogenic and providing critical evidence for clinical care and surveillance of patients with germline FH p.Lys414Glu.
Fields of Study & Subjects
Renal cell carcinoma treatment
Renal and related cancers
Mechanisms of cancer metastasis
Publication details
- Journal / source
- Molecular Genetics and Metabolism Reports
- Volume
- 46
- Pages
- 101287–101287
- Publication date
- 6 January 2026
- Language
- EN