MYH7 c.4402G>A ;(p.E1468K)

Variant ID: 14-23886479-C-T

NM_000257.2(MYH7):c.4402G>A;(p.E1468K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: MYH7: E1468K; rs876657884
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
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: E1468K
PubMed Link: 33764162
Variant Present in the following documents:
  • JAH3-10-e019944.pdf
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: 4402G>A; Glu1468Lys
PubMed Link: 30297972
Variant Present in the following documents:
  • cir-138-1387-s001.pdf
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: 4402G>A; Glu1468Lys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.

Arquivos Brasileiros De Cardiologia
Mattos, Beatriz Piva E BP; Scolari, Fernando Luís FL; Torres, Marco Antonio Rodrigues MA; Simon, Laura L; Freitas, Valéria Centeno de VC; Giugliani, Roberto R; Matte, Úrsula Ú
Publication Date: 2016-09

Variant appearance in text: MYH7: Glu1468Lys
PubMed Link: 27737317
Variant Present in the following documents:
  • Main text
  • abc-107-03-0257.pdf
View BVdb publication page