A recent unbiased study found inflation of the genetic risk of endocrine tumour syndromes in the genotype–phenotype database ClinVar. Here, we discuss the interesting findings and point to potential limitations of this work in light of the recently established consensus statement of the Pheochromocytomas and Paragangliomas (NGSnPPGL) Study Group.
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Acknowledgements
The author thanks the members of the NGS in PPGL (NGSnPPGL) Study Group (N. Burnichon, A. Cascon, D. E. Benn, J.-P. Bayley, J. Welander, C. M. Tops, H. Firth, T. Dwight, T. Ercolino, M. Mannelli, G. Opocher, R. Clifton-Bligh, O. Gimm, E. R. Maher, M. Robledo, A.-P. Gimenez-Roqueplo, P. L. M Dahia) who helped with the preparation of this manuscript. R.A.T. holds a Miguel Servet-I research contract by Institute of Health “Carlos III” of the Ministry of Economy (CP17/00199) and Competitiveness and is supported by a Fundacíon Olga Torres emerging researcher grant.
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RELATED LINKS
The American College of Medical Genetics and Genomics (ACMG): www.acmg.net
ClinGen: www.clinicalgenome.org
Clinvar: https://www.ncbi.nlm.nih.gov/clinvar
European Network for Adrenal Tumours (ENS@T): http://ensat.org
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA): https://enigmaconsortium.org
The Exome Aggregation Consortium (ExAC): http://exac.broadinstitute.org
The Genome Aggregation Database (gnomAD): http://gnomad.broadinstitute.org
Human Longevity, Inc. 10,000 genomes: http://HLI-OpenSearch.com
Orphanet: http://www.orpha.net
Pheochromocytoma and paraganglioma RESearch Support ORganization (PRESSOR): http://pressor.org
The Cancer Genome Atlas (TCGA): https://cancergenome.nih.gov
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Toledo, R.A., on behalf of the NGS in PPGL (NGSnPPGL) Study Group. Inflated pathogenic variant profiles in the ClinVar database. Nat Rev Endocrinol 14, 387–389 (2018). https://doi.org/10.1038/s41574-018-0034-0
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DOI: https://doi.org/10.1038/s41574-018-0034-0
