ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers.
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102 citing papers in PubMed.
- Genetic Cascade Screening for Familial Hypercholesterolemia: A Randomized Clinical Trial.JAMA network open · 2026Trial
- Opportunistic Genomic Screening for Familial Hypercholesterolemia to Improve Low-Density Lipoprotein Cholesterol: A Randomized Clinical Trial.JAMA network open · 2026Trial
- Effect of PCSK9 Inhibition With Alirocumab in Patients With Probable Familial Hypercholesterolemia or Type III Hyperlipoproteinemia: Results From the ODYSSEY OUTCOMES Trial.Journal of the American Heart Association · 2025Trial
- A heritability-optimized method for functional prioritization of rare coding variants in complex traits.Nature genetics · 2026Article
- Putative protective role ofAtherosclerosis plus · 2026Article
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- Genetic Spectrum of Familial Hypercholesterolemia in Russian North-West Registry: Focus on Correlation Between Clinical and Genetic Diagnosis.Journal of cardiovascular development and disease · 2026Article
- Decoding Primary Hyperlipoproteinemias: A Focus on the Pathogenesis and Diagnosis of Familial Hypercholesterolemia and Familial Combined Hyperlipidemia.Diagnostics (Basel, Switzerland) · 2026Review
- Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS).European journal of preventive cardiology · 2026Article
- Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement.European heart journal · 2026Article
- The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.Current atherosclerosis reports · 2026Review
- Review
- A Genome-First Study of Familial Hypercholesterolemia Comparing African and European Ancestry Individuals.Circulation · 2026Article
- Cascade screening and genetic variant pathogenicity assessment for familial hypercholesterolemia in a township‑based elderly population.Lipids in health and disease · 2026Article
- Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants.Journal of medical genetics · 2026Article
- Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemia.European journal of human genetics : EJHG · 2026Article
- Real-world effectiveness and cardiovascular outcomes of PCSK9 inhibitor therapy: a prospective registry study.Lipids in health and disease · 2026 · on this mapArticle
- CharacterizingmedRxiv : the preprint server for health sciences · 2026Article
- Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia.Scientific reports · 2026Article
- Article
42 more citing papers are in PubMed but not listed here.
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29 authors.
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Abstract
purposeIn 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for sequence-level variant classification in Mendelian disorders. To increase accuracy and consistency, the Clinical Genome Resource Familial Hypercholesterolemia (FH) Variant Curation Expert Panel was tasked with optimizing the existing ACMG/AMP framework for disease-specific classification in FH. In this study, we provide consensus recommendations for the most common FH-associated gene, LDLR, where >2300 unique FH-associated variants have been identified.
methodsThe multidisciplinary FH Variant Curation Expert Panel met in person and through frequent emails and conference calls to develop LDLR-specific modifications of ACMG/AMP guidelines. Through iteration, pilot testing, debate, and commentary, consensus among experts was reached.
resultsThe consensus LDLR variant modifications to existing ACMG/AMP guidelines include (1) alteration of population frequency thresholds, (2) delineation of loss-of-function variant types, (3) functional study criteria specifications, (4) cosegregation criteria specifications, and (5) specific use and thresholds for in silico prediction tools, among others.
conclusionEstablishment of these guidelines as the new standard in the clinical laboratory setting will result in a more evidence-based, harmonized method for LDLR variant classification worldwide, thereby improving the care of patients with FH.
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