Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department

The study emphasises the importance of periodic re-evaluation of VUS results for clinical management of probands as well as cascade testing. We show feasibility of conducting reclassification analysis in a referral centre, but highlight the need for ongoing collaboration between clinical and laboratory experts. Our work supports the current recommendation of reclassification every 3-5 years to keep pace with evolving evidence.

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Publication Details

Journal
Journal of Medical Genetics
Published
2024-12-18
DOI
https://doi.org/10.1136/jmg-2024-110208
Citations
5
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
2.01
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article

Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department

Neha Sekhri, Huafrin Kotwal, Luís R. Lopes, S. Horgan et al.
5 citations
Journal of Medical Genetics
Cardiomyopathy and Myosin Studies
2.01
article

Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department

Neha Sekhri, Huafrin Kotwal, Luís R. Lopes, S. Horgan, А. Малан
article en
5 citations

Abstract

The study emphasises the importance of periodic re-evaluation of VUS results for clinical management of probands as well as cascade testing. We show feasibility of conducting reclassification analysis in a referral centre, but highlight the need for ongoing collaboration between clinical and laboratory experts. Our work supports the current recommendation of reclassification every 3-5 years to keep pace with evolving evidence.

Journal of Medical GeneticsVol. 62(3)
St Bartholomew's Hospital (GB), Queen Mary University of London (GB), University College London (GB)
Partnerships for the goals
Openalex Percentile: Top 11%
Cardiomyopathy and Myosin Studies
2.01
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