The Clinical Genome (ClinGen) resource is an NIH initiative developed to provide standardised guidelines and tools for determining the clinical relevance of genes and variants in human health. ClinVar is the central repository of interpreted variants, providing a valuable resource to share genomic data and support transparent variant interpretations. It is important to highlight that ClinGen assertions in ClinVar are recognised by the FDA.
Recently, ClinGen officially recognised the Hemoglobinopathy Variant Curation Expert Panel (VCEP) as a ClinGen Expert Panel for standardised annotation of variants related to haemoglobinopathies. The Haemoglobinopathy VCEP is a joint international and multidisciplinary effort between the ITHANET portal and the Global Globin Network of the Human Variome Project. Prof Marina Kleanthous, an ERN-EuroBloodNet expert, has the executive leadership of the Hemoglobinopathy VCEP, which is coordinated by Dr Petros Kountouris, whereas eight additional ERN-EuroBloodNet members also participate in the panel, namely Prof Antonio Piga, Dr Celeste Bento, Dr Cornelis L Harteveld, Dr. Johan T. den Dunnen, Dr. Tamara T. Koopmann, Dr Carsten W Lederer, Dr Thessalia Papasavva, and Dr Coralea Stephanou. The Hemoglobinopathy VCEP will review variant data stored in the public databases of ClinVar and ITHANET through the application of standards and recommendations published by the 2015 American College of Medical Genetics and Genomics - Association of Molecular Pathology (ACMG-AMP).
Having successfully completed step 1 of the ClinGen Expert Panel application process, the Hemoglobinopathy VCEP has already adapted the ACMG/AMP framework for use in haemoglobinopathies and submitted the final set of the specified criteria, and is currently ready to start the variant curation pilot study to inform further refinement of the proposed guidelines.