Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894369
rs104894369
0.740 GeneticVariation BEFREE In summary, even though R58Q expression was restricted to the heart of mice, functional similarities were clearly observed between the hearts and slow-twitch skeletal muscle, suggesting that MYL2 mutated models of hypertrophic cardiomyopathy may be useful research tools to study the molecular, structural, and energetic mechanisms of cardioskeletal myopathy associated with myosin RLC.-Kazmierczak, K., Liang, J., Yuan, C.-C., Yadav, S., Sitbon, Y. H., Walz, K., Ma, W., Irving, T. C., Cheah, J. X., Gomes, A. V., Szczesna-Cordary, D. Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain. 30365366

2019

dbSNP: rs104894369
rs104894369
0.740 GeneticVariation BEFREE Phosphomimetic-mediated in vitro rescue of hypertrophic cardiomyopathy linked to R58Q mutation in myosin regulatory light chain. 30430732

2019

dbSNP: rs104894369
rs104894369
0.740 GeneticVariation BEFREE Overall, the MYL2-R58Q iPSC-CMs recapitulated the HCM phenotype by exhibiting hypertrophy, myofibrillar disarray, increased irregular beating, decreased [Ca<sup>2+</sup>]<sub>i</sub> transients, and unexpectedly a nearly 50% reduction in LTCC peak current. 30796699

2019

dbSNP: rs104894369
rs104894369
0.740 GeneticVariation BEFREE Therefore, we confirmed that R58Q could be passed from generation to generation along with HCM symptoms and that it was indeed a deleterious mutation for HCM. 31104103

2019

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223

2016

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 26187847

2015

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Diversity and similarity of motor function and cross-bridge kinetics in papillary muscles of transgenic mice carrying myosin regulatory light chain mutations D166V and R58Q. 23727233

2013

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. 21835320

2011

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin. 21723297

2011

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry. 20855589

2010

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Regulatory light chain mutations associated with cardiomyopathy affect myosin mechanics and kinetics. 18929571

2009

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction. 14594949

2004

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575

2003

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. 12404107

2002

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation. 11102452

2001

dbSNP: rs104894369
rs104894369
T 0.740 CausalMutation CLINVAR Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. 9535554

1998