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.
© 2015 John Wiley & Sons Ltd.
MeSH terms
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Adrenal Gland Neoplasms / genetics*
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Adrenal Gland Neoplasms / pathology
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Computer Simulation
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Conserved Sequence
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Evolution, Molecular
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Female
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Humans
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Liver Neoplasms / genetics*
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Liver Neoplasms / secondary
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Middle Aged
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Models, Molecular
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Pheochromocytoma / genetics*
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Pheochromocytoma / secondary
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Polymorphism, Single Nucleotide
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Von Hippel-Lindau Tumor Suppressor Protein / genetics*
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Young Adult
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von Hippel-Lindau Disease / genetics*
Substances
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Von Hippel-Lindau Tumor Suppressor Protein
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VHL protein, human