A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

Alexandra Butters^{1

2}, Kate Thomson³, Franki Harrington⁴, Natasha Henden⁴, Karen McGuire³, Alicia B Byrne⁵, Samantha Bryen^{6

7}, Kathryn A McGurk^{5

8}, Megan Leask⁹, Michael J Ackerman¹⁰, John Atherton¹¹, Johan M Bos¹⁰, Colleen Caleshu^{12

13}, Sharlene M Day¹⁴, Kyla Dunn¹², Ian Hayes⁴, Jimmy Juang¹⁵, Julie McGaughran^{16

17}, Natalie Nowak^{18

19}, Victoria N Parikh¹², Anne Ronan²⁰, Christopher Semsarian^{2

18

19}, Jil C Tardiff²¹, Marianne Tiemensma²², Tony R Merriman^{9

23}, James S Ware^{5

8

24}, Jonathan R Skinner^{25

26

27

28}, Daniel G MacArthur^{6

7}, Owen M Siggs¹, Richard D Bagnall^{2

18}, Jodie Ingles^{1

19}

Affiliations

¹ Genomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.
² Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
³ Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
⁴ Genetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand.
⁵ Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁶ Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, Australia.
⁷ Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.
⁸ National Heart and Lung Institute and MRC Laboratory of Medical Sciences, Imperial College London, London, UK.
⁹ University of Otago, Dunedin, New Zealand.
¹⁰ Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
¹¹ Department of Cardiology, Royal Brisbane Women's Hospital, Brisbane, Australia.
¹² Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.
¹³ Genome Medical, CA, USA.
¹⁴ Division of Cardiovascular Medicine, University of Pennsylvania, Philadelphia, PA, USA.
¹⁵ Cardiovascular Center and Division of Cardiology, National Taiwan University Hospital, Taipei, Taiwan.
¹⁶ Genetic Health Queensland, Brisbane, Australia.
¹⁷ University of Queensland School of Medicine, St Lucia Queensland, Brisbane, Australia.
¹⁸ Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.
¹⁹ Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
²⁰ Newcastle Medical Genetics, University of Newcastle, NSW, Australia.
²¹ Department of Biomedical Engineering, University of Arizona, Tucson, AZ, USA.
²² Forensic Pathology Unit, Royal Darwin Hospital, Darwin, Australia.
²³ Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, USA.
²⁴ Imperial College Healthcare NHS Trust and the Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
²⁵ The Cardiac Inherited Disease Group, Auckland, New Zealand.
²⁶ Greenlane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand.
²⁷ Department of Paediatrics, Child and Youth Health, University of Auckland, New Zealand.
²⁸ Heart Centre for Children, Sydney Children's Hospital Network, Sydney, NSW, Australia.

PMID: 40038847
PMCID: PMC11997547 (available on 2026-03-05)
DOI: 10.1093/eurheartj/ehaf001

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

Alexandra Butters et al. Eur Heart J. 2025.

. 2025 Apr 15;46(15):1446-1449.

doi: 10.1093/eurheartj/ehaf001.

Authors

Affiliations

¹ Genomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.
² Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.
³ Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
⁴ Genetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand.
⁵ Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁶ Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, Australia.
⁷ Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.
⁸ National Heart and Lung Institute and MRC Laboratory of Medical Sciences, Imperial College London, London, UK.
⁹ University of Otago, Dunedin, New Zealand.
¹⁰ Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
¹¹ Department of Cardiology, Royal Brisbane Women's Hospital, Brisbane, Australia.
¹² Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.
¹³ Genome Medical, CA, USA.
¹⁴ Division of Cardiovascular Medicine, University of Pennsylvania, Philadelphia, PA, USA.
¹⁵ Cardiovascular Center and Division of Cardiology, National Taiwan University Hospital, Taipei, Taiwan.
¹⁶ Genetic Health Queensland, Brisbane, Australia.
¹⁷ University of Queensland School of Medicine, St Lucia Queensland, Brisbane, Australia.
¹⁸ Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.
¹⁹ Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
²⁰ Newcastle Medical Genetics, University of Newcastle, NSW, Australia.
²¹ Department of Biomedical Engineering, University of Arizona, Tucson, AZ, USA.
²² Forensic Pathology Unit, Royal Darwin Hospital, Darwin, Australia.
²³ Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, USA.
²⁴ Imperial College Healthcare NHS Trust and the Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK.
²⁵ The Cardiac Inherited Disease Group, Auckland, New Zealand.
²⁶ Greenlane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand.
²⁷ Department of Paediatrics, Child and Youth Health, University of Auckland, New Zealand.
²⁸ Heart Centre for Children, Sydney Children's Hospital Network, Sydney, NSW, Australia.

PMID: 40038847
PMCID: PMC11997547 (available on 2026-03-05)
DOI: 10.1093/eurheartj/ehaf001

No abstract available

Keywords: Cardiomyopathy; Genomics; Population databases.

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References

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A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

Affiliations

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

Authors

Affiliations

References

Grants and funding

LinkOut - more resources

Full Text Sources

Research Materials

Miscellaneous