Population and family data support TNNT2 p.Arg288Cys as an intermediate effect variant in hypertrophic cardiomyopathy
Although ACMG/ClinGen criteria classify TNNT2 p.Arg288Cys as likely benign, integrating population imaging, functional data, and family observations provides a more nuanced interpretation. Together, these findings support its classification as an intermediate-effect variant that modulates HCM risk in the presence of additional genetic or clinical factors.
Authors
- Frank G. van Steenbeek (ORCID: https://orcid.org/0000-0001-5460-6540)
- Jan D.H. Jongbloed (ORCID: https://orcid.org/0000-0003-0663-404X)
- Talitha C. F. Spanjersberg (ORCID: https://orcid.org/0000-0001-7856-0356)
- Fahima Hassanzada (ORCID: https://orcid.org/0009-0004-3987-9507)
- Marion van Vugt
- Folkert W. Asselbergs
- J. Peter van Tintelen
- Pim van der Harst
- Magdalena Harakalova
- Karin Y. van Spaendonck-Zwarts
Institutions
- University Medical Center Groningen (NL)
- Utrecht University (NL)
- Leiden University Medical Center (NL)
- University Medical Center Utrecht (NL)
- Maastricht University (NL)
- Netherlands Heart Institute (NL)
- Amsterdam Neuroscience (NL)
- Amsterdam University Medical Centers (NL)
- Amsterdam University of Applied Sciences (NL)
- University of Amsterdam (NL)
Publication Details
- Journal
- International Journal of Cardiology
- Published
- 2026-03-03
- DOI
- https://doi.org/10.1016/j.ijcard.2026.134264
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00