Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964856
rs121964856
0.730 GeneticVariation BEFREE Further, engineered heart tissues (EHTs) prepared by combining rat decellularized heart extracellular matrices with heterozygous R92Q mutant cardiomyocytes showed similar drug responses as to HCM patients and increased sensitivity to caspofungin-induced cardiotoxicity. 31759053

2020

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models. 28735292

2017

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 26507537

2016

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700

2015

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR IMAGE CARDIO MED: Inducible malignant ventricular tachyarrhythmia in a patient with genotyped hypertrophic cardiomyopathy in absence of left ventricular hypertrophy or enlargement. 19487599

2009

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014

2009

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype. 19087273

2008

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008

dbSNP: rs121964856
rs121964856
0.730 GeneticVariation BEFREE Genotyping showed a heterozygous mis-sense mutation (275G>A) in the cardiac troponin T (TNNT2) gene, which is causally associated with HCM. 19087273

2008

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy. 12186860

2002

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294

2001

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T. 11158969

2001

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. 10085122

1999

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility. 9201030

1997

dbSNP: rs121964856
rs121964856
0.730 GeneticVariation BEFREE Our results indicated that expression of the mutant (Arg92Gln) cTnT, known to cause HCM in humans, impaired intact adult cardiac myocyte contractility. 9201030

1997

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523

1995

dbSNP: rs121964856
rs121964856
T 0.730 CausalMutation CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619

1994