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.
Authors
- Neha Sekhri
- Huafrin Kotwal
- Luís R. Lopes (ORCID: https://orcid.org/0000-0002-6408-4667)
- S. Horgan (ORCID: https://orcid.org/0009-0002-4127-7949)
- А. Малан
Institutions
- St Bartholomew's Hospital (GB)
- Queen Mary University of London (GB)
- University College London (GB)
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