Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Tackling non-canonical splicing in arrhythmogenic cardiomyopathy to reduce the uncertain significance variants burden.

Journal of translational medicine - 20 Jun 2026

Celeghin Rudy, Tosato Giulia, Pinci Serena, Dalla Zanna Francesca, Bueno Marinas Maria, Cason Marco, Basso Cristina, Pilichou Kalliopi

Abstract excerpt

BACKGROUND: Splice-altering variants (SAVs), particularly those outside canonical splice sites, are an underappreciated contributor to inherited cardiovascular diseases. In arrhythmogenic cardiomyopathy (ACM), these variants frequently remain classified as of uncertain significance (VUS) due to limited predictive power and lack of transcript-level evidence, constraining genetic yield and clinical management. Our...

Read the complete abstract on PubMed

Topics

Humans
RNA Splicing
Uncertainty
Arrhythmias, Cardiac
Cardiomyopathies
Arrhythmogenic Right Ventricular Dysplasia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Case-Control Studies

Genetic Variation

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 42323666
DOI: 10.1186/s12967-026-08496-1
PMCID: PMC13548529

Genes

DSC2
DSG2
DSP
FLNC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tackling non-canonical splicing in arrhythmogenic cardiomyopathy to reduce the uncertain significance variants burden.PMID 42323666Read ↗

Tackling Non-Canonical Splicing in Arrhythmogenic Cardiomyopathy to Reduce the Uncertain Significance Variants BurdenSemantic proximity Read ↗

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac deathSemantic proximity Read ↗

Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic DiagnosisSemantic proximity Read ↗

Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years LaterSemantic proximity Read ↗

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.Semantic proximity Read ↗

Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation.Semantic proximity Read ↗

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".Semantic proximity Read ↗

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic SyndromesSemantic proximity Read ↗

Underrepresentation of Diverse Ancestries Drives Uncertainty in Genetic Variants Found in Cardiomyopathy-Associated GenesSemantic proximity Read ↗

The ARVD/C genetic variants database: 2014 update.Semantic proximity Read ↗

Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.Semantic proximity Read ↗

Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.