MYH7 c.2155C>T ;(p.R719W)

Variant ID: 14-23895180-G-A

NM_000257.2(MYH7):c.2155C>T;(p.R719W)

This variant was identified in 91 publications

View GRCh38 version.




Publications:


Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Biorxiv : The Preprint Server For Biology
Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J
Publication Date: 2023-04-18

Variant appearance in text: MYH7: R719W
PubMed Link: 37131793
Variant Present in the following documents:
  • Main text
  • nihpp-2023.04.15.536999v1.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MYH7: 2155C>T; Arg719Trp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Prospects for remodeling the hypertrophic heart with myosin modulators.

Frontiers In Cardiovascular Medicine
Sewanan, Lorenzo R LR; Shimada, Yuichi J YJ
Publication Date: 2022

Variant appearance in text: MYH7: R719W
PubMed Link: 36330009
Variant Present in the following documents:
  • fcvm-09-1051564.pdf
View BVdb publication page



Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.

Biomolecules
Mazzaccara, Cristina C; Lombardi, Raffaella R; Mirra, Bruno B; Barretta, Ferdinando F; Esposito, Maria Valeria MV; Uomo, Fabiana F; Caiazza, Martina M; Monda, Emanuele E; Losi, Maria Angela MA; Limongelli, Giuseppe G; D'Argenio, Valeria V; Frisso, Giulia G
Publication Date: 2022-10-03

Variant appearance in text: MYH7: 2155C>T; Arg719Trp; rs121913637
PubMed Link: 36291626
Variant Present in the following documents:
  • biomolecules-12-01417.pdf
View BVdb publication page



Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Frontiers In Physiology
Kawana, Masataka M; Spudich, James A JA; Ruppel, Kathleen M KM
Publication Date: 2022

Variant appearance in text: MYH7: R719W
PubMed Link: 36225299
Variant Present in the following documents:
  • Main text
  • fphys-13-975076.pdf
View BVdb publication page



Ventricular arrhythmia and sudden cardiac death in hypertrophic cardiomyopathy: From bench to bedside.

Frontiers In Cardiovascular Medicine
Shen, Hua H; Dong, Shi-Yong SY; Ren, Ming-Shi MS; Wang, Rong R
Publication Date: 2022

Variant appearance in text: MYH7: R719W
PubMed Link: 36061538
Variant Present in the following documents:
  • Main text
  • fcvm-09-949294.pdf
View BVdb publication page



Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: MYH7: 2155C>T
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy.

Frontiers In Cell And Developmental Biology
Hsieh, Jeanne J; Becklin, Kelsie L KL; Givens, Sophie S; Komosa, Elizabeth R ER; Lloréns, Juan E Abrahante JEA; Kamdar, Forum F; Moriarity, Branden S BS; Webber, Beau R BR; Singh, Bhairab N BN; Ogle, Brenda M BM
Publication Date: 2022

Variant appearance in text: MYH7: R719W
PubMed Link: 35784482
Variant Present in the following documents:
  • Main text
  • DataSheet1.pdf
  • fcell-10-894635.pdf
View BVdb publication page



Assessment of the Diagnostic Performance of a Novel SARS-CoV-2 Antigen Sealing Tube Test Strip (Colloidal Gold) as Point-of-Care Surveillance Test.

Diagnostics (Basel, Switzerland)
Medoro, Alessandro A; Davinelli, Sergio S; Voccola, Serena S; Cardinale, Gaetano G; Passarella, Daniela D; Marziliano, Nicola N; Intrieri, Mariano M
Publication Date: 2022-05-21

Variant appearance in text: MYH7: Arg719Trp
PubMed Link: 35626434
Variant Present in the following documents:
  • diagnostics-12-01279.pdf
View BVdb publication page



Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

Npj Genomic Medicine
Lesurf, Robert R; Said, Abdelrahman A; Akinrinade, Oyediran O; Breckpot, Jeroen J; Delfosse, Kathleen K; Liu, Ting T; Yao, Roderick R; Persad, Gabrielle G; McKenna, Fintan F; Noche, Ramil R RR; Oliveros, Winona W; Mattioli, Kaia K; Shah, Shreya S; Miron, Anastasia A; Yang, Qian Q; Meng, Guoliang G; Yue, Michelle Chan Seng MCS; Sung, Wilson W L WWL; Thiruvahindrapuram, Bhooma B; Lougheed, Jane J; Oechslin, Erwin E; Mondal, Tapas T; Bergin, Lynn L; Smythe, John J; Jayappa, Shashank S; Rao, Vinay J VJ; Shenthar, Jayaprakash J; Dhandapany, Perundurai S PS; Semsarian, Christopher C; Weintraub, Robert G RG; Bagnall, Richard D RD; Ingles, Jodie J; , ; Melé, Marta M; Maass, Philipp G PG; Ellis, James J; Scherer, Stephen W SW; Mital, Seema S
Publication Date: 2022-03-14

Variant appearance in text: MYH7: 2155C>T; R719W
PubMed Link: 35288587
Variant Present in the following documents:
  • 41525_2022_288_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences
Ušaj, Marko M; Moretto, Luisa L; Månsson, Alf A
Publication Date: 2022-02-16

Variant appearance in text: MYH7: R719W
PubMed Link: 35216312
Variant Present in the following documents:
  • Main text
  • ijms-23-02195.pdf
View BVdb publication page



Genetic Clues on Implantable Cardioverter-Defibrillator Placement in Young-Age Hypertrophic Cardiomyopathy: A Case Report of Novel MYH7 Mutation and Literature Review.

Frontiers In Cardiovascular Medicine
Li, Xing X; Tang, Jie J; Li, Jinhui J; Lin, Sha S; Wang, Tao T; Zhou, Kaiyu K; Li, Yifei Y; Hua, Yimin Y
Publication Date: 2021

Variant appearance in text: MYH7: 2155C>T; R719W
PubMed Link: 35004917
Variant Present in the following documents:
  • Main text
  • fcvm-08-810291.pdf
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYH7: 2155C>T; R719W
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYH7: 2155C>T; R719W
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

International Journal Of Molecular Sciences
Hassoun, Roua R; Budde, Heidi H; Mügge, Andreas A; Hamdani, Nazha N
Publication Date: 2021-10-15

Variant appearance in text: MYH7: R719W
PubMed Link: 34681814
Variant Present in the following documents:
  • Main text
  • ijms-22-11154.pdf
View BVdb publication page



Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine
Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G
Publication Date: 2021-08-31

Variant appearance in text: MYH7: Arg719Trp
PubMed Link: 34575654
Variant Present in the following documents:
  • jpm-11-00877.pdf
View BVdb publication page



Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.

Jama Cardiology
Yoneda, Zachary T ZT; Anderson, Katherine C KC; Quintana, Joseph A JA; O'Neill, Matthew J MJ; Sims, Richard A RA; Glazer, Andrew M AM; Shaffer, Christian M CM; Crawford, Diane M DM; Stricker, Thomas T; Ye, Fei F; Wells, Quinn Q; Stevenson, Lynne W LW; Michaud, Gregory F GF; Darbar, Dawood D; Lubitz, Steven A SA; Ellinor, Patrick T PT; Roden, Dan M DM; Shoemaker, M Benjamin MB
Publication Date: 2021-12-01

Variant appearance in text: MYH7: 2155C>T; Arg719Trp
PubMed Link: 34495297
Variant Present in the following documents:
  • jamacardiol-e213370-s001.pdf
View BVdb publication page



Sudden Cardiac Death Caused by a Fatal Association of Hypertrophic Cardiomyopathy (MYH7, p.Arg719Trp), Heterozygous Familial Hypercholesterolemia (LDLR, p.Gly343Lys) and SARS-CoV-2 B.1.1.7 Infection.

Diagnostics (Basel, Switzerland)
Marziliano, Nicola N; Medoro, Alessandro A; Mignogna, Donatella D; Saccon, Giovanni G; Folzani, Stefano S; Reverberi, Claudio C; Russo, Claudio C; Intrieri, Mariano M
Publication Date: 2021-07-07

Variant appearance in text: MYH7: Arg719Trp
PubMed Link: 34359312
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01229.pdf
View BVdb publication page



Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.

Journal Of The American Heart Association
Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Dellefave-Castillo, Lisa M LM; Wheeler, Matthew T MT; Pottinger, Tess D TD; Robinson, Avery C AC; Kearns, Samuel D SD; Gacita, Anthony M AM; Schoppen, Zachary J ZJ; Pan, Wenyu W; Kim, Gene G; Wilcox, Jane E JE; Anderson, Allen S AS; Ashley, Euan A EA; Day, Sharlene M SM; Cappola, Thomas T; Dorn, Gerald W GW; McNally, Elizabeth M EM
Publication Date: 2021-04-06

Variant appearance in text: MYH7: R719W
PubMed Link: 33764162
Variant Present in the following documents:
  • JAH3-10-e019944.pdf
  • JAH3-10-e019944-s001.pdf
View BVdb publication page



Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders
Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J
Publication Date: 2021-03-05

Variant appearance in text: MYH7: 2155C>T; Arg719Trp
PubMed Link: 33673806
Variant Present in the following documents:
  • 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



To lie or not to lie: Super-relaxing with myosins.

Elife
Nag, Suman S; Trivedi, Darshan V DV
Publication Date: 2021-02-10

Variant appearance in text: MYH7: R719W
PubMed Link: 33565963
Variant Present in the following documents:
  • Main text
  • elife-63703.pdf
View BVdb publication page



To lie or not to lie: Super-relaxing with myosins.

Elife
Nag, Suman S; Trivedi, Darshan V DV
Publication Date: 2021-02-10

Variant appearance in text: MYH7: R719W
PubMed Link: 33565963
Variant Present in the following documents:
  • Main text
  • elife-63703.pdf
View BVdb publication page



Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Nature Genetics
Tadros, Rafik R; Francis, Catherine C; Xu, Xiao X; Vermeer, Alexa M C AMC; Harper, Andrew R AR; Huurman, Roy R; Kelu Bisabu, Ken K; Walsh, Roddy R; Hoorntje, Edgar T ET; Te Rijdt, Wouter P WP; Buchan, Rachel J RJ; van Velzen, Hannah G HG; van Slegtenhorst, Marjon A MA; Vermeulen, Jentien M JM; Offerhaus, Joost Allard JA; Bai, Wenjia W; de Marvao, Antonio A; Lahrouchi, Najim N; Beekman, Leander L; Karper, Jacco C JC; Veldink, Jan H JH; Kayvanpour, Elham E; Pantazis, Antonis A; Baksi, A John AJ; Whiffin, Nicola N; Mazzarotto, Francesco F; Sloane, Geraldine G; Suzuki, Hideaki H; Schneider-Luftman, Deborah D; Elliott, Paul P; Richard, Pascale P; Ader, Flavie F; Villard, Eric E; Lichtner, Peter P; Meitinger, Thomas T; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Thain, Andrew A; McCarty, David D; Hegele, Robert A RA; Roberts, Jason D JD; Amyot, Julie J; Dubé, Marie-Pierre MP; Cadrin-Tourigny, Julia J; Giraldeau, Geneviève G; L'Allier, Philippe L PL; Garceau, Patrick P; Tardif, Jean-Claude JC; Boekholdt, S Matthijs SM; Lumbers, R Thomas RT; Asselbergs, Folkert W FW; Barton, Paul J R PJR; Cook, Stuart A SA; Prasad, Sanjay K SK; O'Regan, Declan P DP; van der Velden, Jolanda J; Verweij, Karin J H KJH; Talajic, Mario M; Lettre, Guillaume G; Pinto, Yigal M YM; Meder, Benjamin B; Charron, Philippe P; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Wilde, Arthur A M AAM; Watkins, Hugh H; Matthews, Paul M PM; Ware, James S JS; Bezzina, Connie R CR
Publication Date: 2021-02

Variant appearance in text: MYH7: 2155C>T; R719W
PubMed Link: 33495596
Variant Present in the following documents:
  • EMS114661-supplement-Supplementary_Tables.xlsx, sheet 3
View BVdb publication page



Preventative therapeutic approaches for hypertrophic cardiomyopathy.

The Journal Of Physiology
Solomon, Tanya T; Filipovska, Aleksandra A; Hool, Livia L; Viola, Helena H
Publication Date: 2021-07

Variant appearance in text: MYH7: Arg719Trp
PubMed Link: 32822065
Variant Present in the following documents:
  • Main text
View BVdb publication page



SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants.

Plos One
Huang, Wei-Chih WC; Huang, Hsin-Tzu HT; Chen, Po-Yuan PY; Wang, Wei-Chi WC; Ko, Tai-Ming TM; Shrestha, Sirjana S; Yang, Chi-Dung CD; Tai, Chun-San CS; Chiew, Men-Yee MY; Chou, Yu-Pao YP; Hu, Yu-Feng YF; Huang, Hsien-Da HD
Publication Date: 2020

Variant appearance in text: MYH7: Arg719Trp
PubMed Link: 32813752
Variant Present in the following documents:
  • Main text
  • pone.0237731.pdf
View BVdb publication page



Stochastic allelic expression as trigger for contractile imbalance in hypertrophic cardiomyopathy.

Biophysical Reviews
Montag, Judith J; Kraft, Theresia T
Publication Date: 2020-08

Variant appearance in text: MYH7: R719W
PubMed Link: 32661905
Variant Present in the following documents:
  • Main text
View BVdb publication page



Left Bundle Pacing for Left Bundle Branch Block and Intermittent Third-Degree Atrioventricular Block in a MYH7 Mutation-Related Hypertrophic Cardiomyopathy With Restrictive Phenotype in a Child.

Frontiers In Pediatrics
Zhang, Luyan L; Cheng, Xueying X; Chen, Jinlong J; Zhou, Ming M; Qian, Tianwei T; Zhang, Zhongman Z; Yin, Jie J; Zhang, Han H; Dai, Genyin G; Qin, Yuming Y; Yang, Shiwei S
Publication Date: 2020

Variant appearance in text: MYH7: 2155C>T; R719W
PubMed Link: 32612965
Variant Present in the following documents:
  • Main text
  • fped-08-00312.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MYH7: R719W
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.

Journal Of Clinical Medicine
Magrì, Damiano D; Mastromarino, Vittoria V; Gallo, Giovanna G; Zachara, Elisabetta E; Re, Federica F; Agostoni, Piergiuseppe P; Giordano, Dario D; Rubattu, Speranza S; Forte, Maurizio M; Cotugno, Maria M; Torrisi, Maria Rosaria MR; Petrucci, Simona S; Germani, Aldo A; Savio, Camilla C; Maruotti, Antonello A; Volpe, Massimo M; Autore, Camillo C; Piane, Maria M; Musumeci, Beatrice B
Publication Date: 2020-05-28

Variant appearance in text: MYH7: Arg719Trp
PubMed Link: 32481709
Variant Present in the following documents:
  • Main text
  • jcm-09-01636.pdf
View BVdb publication page



Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy.

Plos One
Nijenkamp, Louise L A M LLAM; Bollen, Ilse A E IAE; Niessen, Hans W M HWM; Dos Remedios, Cris G CG; Michels, Michelle M; Poggesi, Corrado C; Ho, Carolyn Y CY; Kuster, Diederik W D DWD; van der Velden, Jolanda J
Publication Date: 2020

Variant appearance in text: MYH7: R719W
PubMed Link: 32369506
Variant Present in the following documents:
  • Main text
View BVdb publication page



The hypertrophic cardiomyopathy mutations R403Q and R663H increase the number of myosin heads available to interact with actin.

Science Advances
Sarkar, Saswata S SS; Trivedi, Darshan V DV; Morck, Makenna M MM; Adhikari, Arjun S AS; Pasha, Shaik N SN; Ruppel, Kathleen M KM; Spudich, James A JA
Publication Date: 2020-04

Variant appearance in text: MYH7: R719W
PubMed Link: 32284968
Variant Present in the following documents:
  • Main text
  • aax0069.pdf
View BVdb publication page



Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.

Circulation
Toepfer, Christopher N CN; Garfinkel, Amanda C AC; Venturini, Gabriela G; Wakimoto, Hiroko H; Repetti, Giuliana G; Alamo, Lorenzo L; Sharma, Arun A; Agarwal, Radhika R; Ewoldt, Jourdan F JF; Cloonan, Paige P; Letendre, Justin J; Lun, Mingyue M; Olivotto, Iacopo I; Colan, Steve S; Ashley, Euan E; Jacoby, Daniel D; Michels, Michelle M; Redwood, Charles S CS; Watkins, Hugh C HC; Day, Sharlene M SM; Staples, James F JF; Padrón, Raúl R; Chopra, Anant A; Ho, Carolyn Y CY; Chen, Christopher S CS; Pereira, Alexandre C AC; Seidman, Jonathan G JG; Seidman, Christine E CE
Publication Date: 2020-03-10

Variant appearance in text: MYH7: R719W
PubMed Link: 31983222
Variant Present in the following documents:
  • Main text
  • cir-141-828-s001.pdf
View BVdb publication page



Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.

Nature Communications
Esfahani, Mohammad S MS; Lee, Luke J LJ; Jeon, Young-Jun YJ; Flynn, Ryan A RA; Stehr, Henning H; Hui, Angela B AB; Ishisoko, Noriko N; Kildebeck, Eric E; Newman, Aaron M AM; Bratman, Scott V SV; Porteus, Matthew H MH; Chang, Howard Y HY; Alizadeh, Ash A AA; Diehn, Maximilian M
Publication Date: 2019-12-13

Variant appearance in text: MYH7: R719W
PubMed Link: 31836708
Variant Present in the following documents:
  • 41467_2019_13392_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MYH7: 2155C>T; R719W
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: MYH7: 2155C>T; Arg719Trp
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 6
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association
van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D
Publication Date: 2019-12-03

Variant appearance in text: MYH7: 2155C>T; Arg719Trp
PubMed Link: 31771441
Variant Present in the following documents:
  • JAH3-8-e012993.pdf
  • JAH3-8-e012993-s001.pdf
View BVdb publication page



Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties.

The Journal Of Biological Chemistry
Vera, Carlos D CD; Johnson, Chloe A CA; Walklate, Jonathan J; Adhikari, Arjun A; Svicevic, Marina M; Mijailovich, Srboljub M SM; Combs, Ariana C AC; Langer, Stephen J SJ; Ruppel, Kathleen M KM; Spudich, James A JA; Geeves, Michael A MA; Leinwand, Leslie A LA
Publication Date: 2019-11-15

Variant appearance in text: MYH7: R719W
PubMed Link: 31582565
Variant Present in the following documents:
  • Main text
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: MYH7: 2155C>T; R719W
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity.

Nature Communications
Adhikari, Arjun S AS; Trivedi, Darshan V DV; Sarkar, Saswata S SS; Song, Dan D; Kooiker, Kristina B KB; Bernstein, Daniel D; Spudich, James A JA; Ruppel, Kathleen M KM
Publication Date: 2019-06-18

Variant appearance in text: MYH7: R719W
PubMed Link: 31213605
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_10555.pdf
  • 41467_2019_10555_MOESM1_ESM.pdf
View BVdb publication page



Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure
Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J
Publication Date: 2019-04

Variant appearance in text: MYH7: 2155C>T; Arg719Trp
PubMed Link: 30775854
Variant Present in the following documents:
  • Main text
  • EHF2-6-436-s005.xlsx, sheet 1
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Altered force generation and cell-to-cell contractile imbalance in hypertrophic cardiomyopathy.

Pflugers Archiv : European Journal Of Physiology
Kraft, Theresia T; Montag, Judith J
Publication Date: 2019-05

Variant appearance in text: MYH7: R719W
PubMed Link: 30740621
Variant Present in the following documents:
  • Main text
  • 424_2019_Article_2260.pdf
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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: MYH7: 2155C>T; Arg719Trp
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
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Perspectives on current recommendations for genetic testing in HCM.

Global Cardiology Science & Practice
Monserrat, Lorenzo L
Publication Date: 2018-08-12

Variant appearance in text: MYH7: Arg719Trp
PubMed Link: 30393635
Variant Present in the following documents:
  • Main text
  • gcsp-2018-3-e201823.pdf
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