Publications:

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Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).

Peerj

Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L

Publication Date: 2022

Variant appearance in text: SCN5A: Thr512Ile; rs199473118

PubMed Link: 35996667

Variant Present in the following documents:

• Main text
• peerj-10-13913.pdf

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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: SCN5A: 1535C>T; Thr512Ile

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SCN5A: T512I

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: SCN5A: 1535C>T; Thr512Ile

PubMed Link: 30026549

Variant Present in the following documents:

• Main text
• 41598_2018_29279_MOESM1_ESM.pdf
• 41598_2018_Article_29279.pdf

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H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.

Journal Of Biomedical Science

Matsumura, Hiroya H; Nakano, Yukiko Y; Ochi, Hidenori H; Onohara, Yuko Y; Sairaku, Akinori A; Tokuyama, Takehito T; Tomomori, Shunsuke S; Motoda, Chikaaki C; Amioka, Michitaka M; Hironobe, Naoya N; Toshishige, Masaaki M; Takahashi, Shinya S; Imai, Katsuhiko K; Sueda, Taijiro T; Chayama, Kazuaki K; Kihara, Yasuki Y

Publication Date: 2017-12-04

Variant appearance in text: SCN5A: T512I

PubMed Link: 29202755

Variant Present in the following documents:

• Main text
• 12929_2017_Article_397.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SCN5A: 1535C>T; Thr512Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.5: T512I

PubMed Link: 28150151

Variant Present in the following documents:

• 13238_2017_Article_372.pdf

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Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.

Journal Of Clinical Laboratory Analysis

Priganc, Mariana M; Zigová, Michaela M; Boroňová, Iveta I; Bernasovská, Jarmila J; Dojčáková, Dana D; Szabadosová, Viktória V; Mydlárová Blaščáková, Marta M; Tóthová, Iveta I; Kmec, Ján J; Bernasovský, Ivan I

Publication Date: 2017-03

Variant appearance in text: SCN5A: 1535C>T; T512I; rs199473118

PubMed Link: 27554632

Variant Present in the following documents:

• Main text

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: SCN5A: 1535C>T; T512I

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.

Journal Of The American Heart Association

Veltmann, Christian C; Barajas-Martinez, Hector H; Wolpert, Christian C; Borggrefe, Martin M; Schimpf, Rainer R; Pfeiffer, Ryan R; Cáceres, Gabriel G; Burashnikov, Elena E; Antzelevitch, Charles C; Hu, Dan D

Publication Date: 2016-07-05

Variant appearance in text: SCN5A: T512I

PubMed Link: 27381756

Variant Present in the following documents:

• Main text
• JAH3-5-e003379.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN5A: T512I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Journal Of Interventional Cardiac Electrophysiology : An International Journal Of Arrhythmias And Pacing

Milanesi, Raffaella R; Bucchi, Annalisa A; Baruscotti, Mirko M

Publication Date: 2015-08

Variant appearance in text: LQT3: T512I

PubMed Link: 25863800

Variant Present in the following documents:

• Main text
• 10840_2015_Article_9998.pdf

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CaMKII-dependent regulation of cardiac Na(+) homeostasis.

Frontiers In Pharmacology

Grandi, Eleonora E; Herren, Anthony W AW

Publication Date: 2014

Variant appearance in text: SCN5A: T512I

PubMed Link: 24653702

Variant Present in the following documents:

• Main text
• fphar-05-00041.pdf

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A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.

Heart Rhythm

Shinlapawittayatorn, Krekwit K; Du, Xi X XX; Liu, Haiyan H; Ficker, Eckhard E; Kaufman, Elizabeth S ES; Deschênes, Isabelle I

Publication Date: 2011-03

Variant appearance in text: SCN5A: T512I

PubMed Link: 21109022

Variant Present in the following documents:

• Main text

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Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Zhang, Yu Y; Chang, Bingxi B; Hu, Songnian S; Wang, Duenmei D; Fang, Quan Q; Huang, Xianyong X; Zeng, Qiang Q; Qi, Ming M

Publication Date: 2008-04

Variant appearance in text: SCN5A: Thr512Ile

PubMed Link: 18426444

Variant Present in the following documents:

• Main text

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A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

The Journal Of Clinical Investigation

Viswanathan, Prakash C PC; Benson, D Woodrow DW; Balser, Jeffrey R JR

Publication Date: 2003-02

Variant appearance in text: SCN5A: T512I

PubMed Link: 12569159

Variant Present in the following documents:

• Main text

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