KCNQ1 c.590C>T ;(p.P197L)

Variant ID: 11-2591970-C-T

NM_000218.2(KCNQ1):c.590C>T;(p.P197L)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 590C>T; Pro197Leu
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology
Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE
Publication Date: 2022

Variant appearance in text: KCNQ1: P197L
PubMed Link: 36339618
Variant Present in the following documents:
  • fphar-13-1010119.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: KCNQ1: 590C>T; Pro197Leu
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: KCNQ1: 590C>T; Pro197Leu; rs200108320
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology
Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE
Publication Date: 2020-08

Variant appearance in text: LQT1: P197L
PubMed Link: 32797034
Variant Present in the following documents:
  • Main text
  • pcbi.1008109.pdf
View BVdb publication page



Upgraded molecular models of the human KCNQ1 potassium channel.

Plos One
Kuenze, Georg G; Duran, Amanda M AM; Woods, Hope H; Brewer, Kathryn R KR; McDonald, Eli Fritz EF; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J
Publication Date: 2019

Variant appearance in text: KCNQ1: P197L
PubMed Link: 31518351
Variant Present in the following documents:
  • Main text
  • pone.0220415.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: KCNQ1: P197L
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 39
View BVdb publication page



Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06

Variant appearance in text: KCNQ1: 590C>T; Pro197Leu; rs200108320
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Circulation. Genomic And Precision Medicine
Vanoye, Carlos G CG; Desai, Reshma R RR; Fabre, Katarina L KL; Gallagher, Shannon L SL; Potet, Franck F; DeKeyser, Jean-Marc JM; Macaya, Daniela D; Meiler, Jens J; Sanders, Charles R CR; George, Alfred L AL
Publication Date: 2018-11

Variant appearance in text: KCNQ1: P197L
PubMed Link: 30571187
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Science Advances
Huang, Hui H; Kuenze, Georg G; Smith, Jarrod A JA; Taylor, Keenan C KC; Duran, Amanda M AM; Hadziselimovic, Arina A; Meiler, Jens J; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR
Publication Date: 2018-03

Variant appearance in text: KCNQ1: P197L
PubMed Link: 29532034
Variant Present in the following documents:
  • Main text
  • aar2631.pdf
  • aar2631_SM.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs200108320
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Heart Rhythm
Clemens, Daniel J DJ; Lentino, Anne R AR; Kapplinger, Jamie D JD; Ye, Dan D; Zhou, Wei W; Tester, David J DJ; Ackerman, Michael J MJ
Publication Date: 2018-04

Variant appearance in text: KCNQ1: P197L
PubMed Link: 29197658
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: KCNQ1: 590C>T; Pro197Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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: KCNQ1: 590C>T; P197L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page