Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.
Kelsey E BreenMaria I CarloYelena M KemelAnna MaioYing-Bei ChenZarina YelskayaOzge Ceyhan-BirsoyDiana MandelkerPublished in: Molecular genetics & genomic medicine (2020)
This combination of evidence suggests that the FH c.914C > T (p.Phe305Ser) is pathogenic for HLRCC.