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Article

Population and family data support TNNT2 p.Arg288Cys as an intermediate effect variant in hypertrophic cardiomyopathy.

International journal of cardiology - 1 Jun 2026

Spanjersberg Talitha C F, Hassanzada Fahima, Jongbloed Jan D H, Dooijes Dennis, van Tintelen J Peter, Asselbergs Folkert W, van der Harst Pim, van Steenbeek Frank G, Harakalova Magdalena, van Spaendonck-Zwarts Karin Y, van Vugt Marion

Abstract excerpt

BACKGROUND: The TNNT2 (NM_001276345.2):c.862C>T, p.Arg288Cys variant has conflicting pathogenicity classifications. It is reported in individuals with severe hypertrophic cardiomyopathy (HCM) yet also occurs in the general population at a frequency challenging its presumed pathogenicity and creating uncertainty for genetic counseling. Therefore, the aim of this study was to evaluate its clinical relevance....

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Identifiers

PMID: 41780691
DOI: 10.1016/j.ijcard.2026.134264

Genes

TNNT2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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