ArticleEBioMedicine2020
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Article in EBioMedicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.
- Arrhythmogenic cardiomyopathy diagnosis and management: a systematic review of clinical practice guidelines and recommendations with insights for future research.European heart journal. Quality of care & clinical outcomes · 2025Pooled it
- The importance and clinical utility of reanalysis of exome and genome sequencing data.Kidney research and clinical practice · 2026Article
- Successful Isoproterenol Treatment for Ventricular Fibrillation Storm in Early Repolarization Syndrome With SCN5A Mutation.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2026Article
- Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes.iScience · 2025Article
- Sudden Cardiac Death: The Role of Molecular Autopsy with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Review
- Interpreting the actionable clinical role of rare variants associated with short QT syndrome.Human genetics · 2024Article
- Generation of Isogenic iPSC Lines for Studying the Effect of the p.N515del (c.1543_1545delAAC) Variant on MYBPC3 Function and Hypertrophic Cardiomyopathy Pathogenesis.International journal of molecular sciences · 2024Article
- Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.Journal of medical genetics · 2024Article
- The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.International journal of molecular sciences · 2024Article
- Promise and Peril of a Genotype-First Approach to Mendelian Cardiovascular Disease.Journal of the American Heart Association · 2024Review
- Cardiac channelopathies in pediatrics: a genetic update.European journal of pediatrics · 2024Review
- "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".BMC cardiovascular disorders · 2024Article
- Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Autopsy.Current issues in molecular biology · 2024Review
- Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.International journal of molecular sciences · 2024Article
- Artificial Intelligence in Diagnosis of Long QT Syndrome: A Review of Current State, Challenges, and Future Perspectives.Mayo Clinic proceedings. Digital health · 2024Review
- The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.PloS one · 2024Article
- Improvement of variant reclassification in genetic neurodevelopmental conditions.Genetics in medicine open · 2024Article
- Variant reclassification and recontact research: A scoping review.Genetics in medicine open · 2024Article
- Management Strategies in Arrhythmogenic Cardiomyopathy across the Spectrum of Ventricular Involvement.Biomedicines · 2023Review
- Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.BMC medical genomics · 2023Article
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAccurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification. We aim to perform an exhaustive re-analysis of rare variants associated with inherited arrhythmogenic syndromes, which were classified ten years ago, to determine whether their classification aligns with current standards and research findings.
methodsIn 2010, the rare variants identified through genetic analysis were classified following recommendations available at that time. Nowadays, the same variants have been reclassified following current American College of Medical Genetics and Genomics recommendations.
findingsOur cohort included 104 cases diagnosed with inherited arrhythmogenic syndromes and 17 post-mortem cases in which inherited arrhythmogenic syndromes was cause of death. 71.87% of variants change their classification. While 65.62% of variants were classified as likely pathogenic in 2010, after reanalysis, only 17.96% remain as likely pathogenic. In 2010, 18.75% of variants were classified as uncertain role but nowadays 60.15% of variants are classified of unknown significance.
interpretationReclassification occurred in more than 70% of rare variants associated with inherited arrhythmogenic syndromes. Our results support the periodical reclassification and personalized clinical translation of rare variants to improve diagnosis and adjust treatment.
fundingObra Social "La Caixa Foundation" (ID 100010434, LCF/PR/GN16/50290001 and LCF/PR/GN19/50320002), Fondo Investigacion Sanitaria (FIS PI16/01203 and FIS, PI17/01690), Sociedad Española de Cardiología, and "Fundacio Privada Daniel Bravo Andreu".
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