MYH7 c.4031G>A ;(p.R1344Q)

Variant ID: 14-23887557-C-T

NM_000257.2(MYH7):c.4031G>A;(p.R1344Q)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine
Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW
Publication Date: 2022-10-20

Variant appearance in text: MYH7: Arg1344Gln; rs797045097
PubMed Link: 36264615
Variant Present in the following documents:
  • hcg-15-e003704-s001.pdf
View BVdb publication page



Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal
Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY
Publication Date: 2021-05-21

Variant appearance in text: MYH7: 4031G>A; Arg1344Gln
PubMed Link: 33769460
Variant Present in the following documents:
  • ehab148_supplementary_appendix.pdf
View BVdb publication page



Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V
Publication Date: 2020-09

Variant appearance in text: MYH7: 4031G>A; R1344Q
PubMed Link: 32528171
Variant Present in the following documents:
  • 41436_2020_840_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Functional characterization of SCN10A variants in several cases of sudden unexplained death.

Forensic Science International
Gando, Ivan I; Williams, Nori N; Fishman, Glenn I GI; Sampson, Barbara A BA; Tang, Yingying Y; Coetzee, William A WA
Publication Date: 2019-08

Variant appearance in text: MYH7: Arg1344Gln
PubMed Link: 31195250
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 4031G>A; Arg1344Gln
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation
Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I
Publication Date: 2018-10-02

Variant appearance in text: MYH7: 4031G>A; Arg1344Gln
PubMed Link: 30297972
Variant Present in the following documents:
  • cir-138-1387-s001.pdf
View BVdb publication page



A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.

Circulation. Cardiovascular Genetics
Cirino, Allison L AL; Lakdawala, Neal K NK; McDonough, Barbara B; Conner, Lauren L; Adler, Dale D; Weinfeld, Mark M; O'Gara, Patrick P; Rehm, Heidi L HL; Machini, Kalotina K; Lebo, Matthew M; Blout, Carrie C; Green, Robert C RC; MacRae, Calum A CA; Seidman, Christine E CE; Ho, Carolyn Y CY; ,
Publication Date: 2017-10

Variant appearance in text: MYH7: 4031G>A; Arg1344Gln
PubMed Link: 29030401
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: MYH7: 4031G>A; Arg1344Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page