ArticleBlood advances2021
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
Article in Blood advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Epigenome editing of human hematopoietic stem cells enables sustained and reversible thrombosis prevention.bioRxiv : the preprint server for biology · 2026Article
- Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines.Human mutation · 2026Article
- Functional classification of platelet gene variants using CRISPR HDR in CD34American journal of human genetics · 2025Article
- Molecular Pathogenesis of Inherited Platelet Dysfunction.Biomolecules · 2025Review
- Is genetic testing for heritable thrombocytopenia coming of age?Research and practice in thrombosis and haemostasis · 2025Article
- Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays.Biomolecules · 2025Review
- Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.NPJ genomic medicine · 2025Article
- Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.Journal of medical genetics · 2024Article
- Catheter Intervention in a Patient with Intracranial Aneurysms and Glanzmann Thrombasthenia Caused by a Novel Homozygous Likely Pathogenic Variant in theDiseases (Basel, Switzerland) · 2024Article
- Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.medRxiv : the preprint server for health sciences · 2024Article
- Article
- How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.Human genetics · 2023Article
- A single F153Sβ3 mutation causes constitutive integrin αIIbβ3 activation in a variant form of Glanzmann thrombasthenia.Blood advances · 2023Article
- REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.Human mutation · 2023Article
- Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.Blood · 2022Article
- Genetics of inherited thrombocytopenias.Blood · 2022Review
- Expanding the genetic spectrum of TUBB1-related thrombocytopenia.Blood advances · 2021Article
- Hemostatic phenotypes and genetic disorders.Research and practice in thrombosis and haemostasis · 2021Article
- GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.Journal of thrombosis and haemostasis : JTH · 2021Article
- A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation.Journal of blood medicine · 2021Review
Corrections and comments
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Authors and funding
19 authors.
Funding
Abstract
Accurate and consistent sequence variant interpretation is critical to the correct diagnosis and appropriate clinical management and counseling of patients with inherited genetic disorders. To minimize discrepancies in variant curation and classification among different clinical laboratories, the American College of Medical Genetics and Genomics (ACMG), along with the Association for Molecular Pathology (AMP), published standards and guidelines for the interpretation of sequence variants in 2015. Because the rules are not universally applicable to different genes or disorders, the Clinical Genome Resource (ClinGen) Platelet Disorder Expert Panel (PD-EP) has been tasked to make ACMG/AMP rule specifications for inherited platelet disorders. ITGA2B and ITGB3, the genes underlying autosomal recessive Glanzmann thrombasthenia (GT), were selected as the pilot genes for specification. Eight types of evidence covering clinical phenotype, functional data, and computational/population data were evaluated in the context of GT by the ClinGen PD-EP. The preliminary specifications were validated with 70 pilot ITGA2B/ITGB3 variants and further refined. In the final adapted criteria, gene- or disease-based specifications were made to 16 rules, including 7 with adjustable strength; no modification was made to 5 rules; and 7 rules were deemed not applicable to GT. Employing the GT-specific ACMG/AMP criteria to the pilot variants resulted in a reduction of variants classified with unknown significance from 29% to 20%. The overall concordance with the initial expert assertions was 71%. These adapted criteria will serve as guidelines for GT-related variant interpretation to increase specificity and consistency across laboratories and allow for better clinical integration of genetic knowledge into patient care.
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