title: Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?
abstract: A 23-year-old woman with metastatic phaeochromocytoma was found to have a previously unclassified variant in the von Hippel Lindau disease gene (c.361G>C). We use this case to highlight the issue of unclassified single nucleotide variants and the approaches to help predict whether they are disease causing or neutral. With increasing use of genetic testing, and widespread clinical use of next-generation sequencing around the corner, this issue is likely to become more prominent.
authors.affiliation: Department of Endocrinology, Austin Health, Heidelberg, VIC, Australia.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Russell
authors.affiliation: Department of Medicine Austin Health, University of Melbourne, Heidelberg, VIC, Australia.|Clinical Genetics Service, Austin Health, Heidelberg, VIC, Australia.
authors.forename: Martin
authors.initials: M
authors.lastname: Delatycki
authors.affiliation: Department of Endocrinology, Austin Health, Heidelberg, VIC, Australia.|Department of Medicine Austin Health, University of Melbourne, Heidelberg, VIC, Australia.|Clinical Genetics Service, Austin Health, Heidelberg, VIC, Australia.
authors.forename: Mathis
authors.initials: M
authors.lastname: Grossmann
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D003198:Computer Simulation; D017124:Conserved Sequence; D019143:Evolution, Molecular; D005260:Female; D006801:Humans; D008113:Liver Neoplasms / Q000235:genetics* / Q000556:secondary; D008875:Middle Aged; D008958:Models, Molecular; D010673:Pheochromocytoma / Q000235:genetics* / Q000556:secondary; D020641:Polymorphism, Single Nucleotide; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human