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

A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome.

Heart rhythm - 1 Mar 2022

Bains Sahej, Dotzler Steven M, Krijger Christian, Giudicessi John R, Ye Dan, Bikker Hennie, Rohatgi Ram K, Tester David J, Bos J Martijn, Wilde Arthur A M, Ackerman Michael J

Abstract excerpt

BACKGROUND: Pathogenic/likely pathogenic (P/LP) variants in the KCNQ1-encoded Kv7.1 potassium channel cause type 1 long QT syndrome (LQT1). Despite the revamped 2015 American College of Medical Genetics (ACMG) variant interpretation guidelines, the burden of KCNQ1 variants of uncertain significance (VUS) in patients with LQTS remains ∼30%. OBJECTIVE: The purpose of this study was to determine whether a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Testing
Share to KCNQ1 Potassium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Long QT Syndrome

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 34798354
DOI: 10.1016/j.hrthm.2021.11.017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome.PMID 34798354Read ↗

A Phenotype-Enhanced Variant Classification Framework to Decrease the Burden of Variants of Uncertain Significance in Type 2 Long QT Syndrome.Semantic proximity Read ↗

Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain SignificanceSemantic proximity Read ↗

High Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown SignificanceSemantic proximity Read ↗

Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings.Semantic proximity Read ↗

Genetic variant annotation scores in congenital long QT syndrome.Semantic proximity Read ↗

Prioritize Variant Reclassification in Pediatric Long QT Syndrome-Time to Revisit.Semantic proximity Read ↗

Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesisSemantic proximity Read ↗

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.Semantic proximity Read ↗

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia RiskSemantic proximity Read ↗

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.Semantic proximity Read ↗

The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.Semantic proximity Read ↗

Re-evaluating pathogenicity of variants associated with the long QT syndrome.Semantic proximity Read ↗

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