RYR1 c.7373G>A ;(p.R2458H)

Variant ID: 19-38991295-G-A

NM_000540.2(RYR1):c.7373G>A;(p.R2458H)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


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: RYR1: 7373G>A; Arg2458His
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Acta Neuropathologica Communications
Fusto, Aurora A; Cassandrini, Denise D; Fiorillo, Chiara C; Codemo, Valentina V; Astrea, Guja G; D'Amico, Adele A; Maggi, Lorenzo L; Magri, Francesca F; Pane, Marika M; Tasca, Giorgio G; Sabbatini, Daniele D; Bello, Luca L; Battini, Roberta R; Bernasconi, Pia P; Fattori, Fabiana F; Bertini, Enrico Silvio ES; Comi, Giacomo G; Messina, Sonia S; Mongini, Tiziana T; Moroni, Isabella I; Panicucci, Chiara C; Berardinelli, Angela A; Donati, Alice A; Nigro, Vincenzo V; Pini, Antonella A; Giannotta, Melania M; Dosi, Claudia C; Ricci, Enzo E; Mercuri, Eugenio E; Minervini, Giovanni G; Tosatto, Silvio S; Santorelli, Filippo F; Bruno, Claudio C; Pegoraro, Elena E
Publication Date: 2022-04-15

Variant appearance in text: RYR1: 7373G>A; Arg2458His
PubMed Link: 35428369
Variant Present in the following documents:
  • Main text
  • 40478_2022_Article_1357.pdf
View BVdb publication page



Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18

Variant appearance in text: RYR1: 7373G>A; R2458H
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal Of Personalized Medicine
Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB
Publication Date: 2021-05-11

Variant appearance in text: rs121918594
PubMed Link: 34064668
Variant Present in the following documents:
  • Main text
  • jpm-11-00394.pdf
View BVdb publication page



Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal Of Medical Genetics
Laquerriere, Annie A; Jaber, Dana D; Abiusi, Emanuela E; Maluenda, Jérome J; Mejlachowicz, Dan D; Vivanti, Alexandre A; Dieterich, Klaus K; Stoeva, Radka R; Quevarec, Loic L; Nolent, Flora F; Biancalana, Valerie V; Latour, Philippe P; Sternberg, Damien D; Capri, Yline Y; Verloes, Alain A; Bessieres, Bettina B; Loeuillet, Laurence L; Attie-Bitach, Tania T; Martinovic, Jelena J; Blesson, Sophie S; Petit, Florence F; Beneteau, Claire C; Whalen, Sandra S; Marguet, Florent F; Bouligand, Jerome J; Héron, Delphine D; Viot, Géraldine G; Amiel, Jeanne J; Amram, Daniel D; Bellesme, Céline C; Bucourt, Martine M; Faivre, Laurence L; Jouk, Pierre-Simon PS; Khung, Suonavy S; Sigaudy, Sabine S; Delezoide, Anne-Lise AL; Goldenberg, Alice A; Jacquemont, Marie-Line ML; Lambert, Laetitia L; Layet, Valérie V; Lyonnet, Stanislas S; Munnich, Arnold A; Van Maldergem, Lionel L; Piard, Juliette J; Guimiot, Fabien F; Landrieu, Pierre P; Letard, Pascaline P; Pelluard, Fanny F; Perrin, Laurence L; Saint-Frison, Marie-Hélène MH; Topaloglu, Haluk H; Trestard, Laetitia L; Vincent-Delorme, Catherine C; Amthor, Helge H; Barnerias, Christine C; Benachi, Alexandra A; Bieth, Eric E; Boucher, Elise E; Cormier-Daire, Valerie V; Delahaye-Duriez, Andrée A; Desguerre, Isabelle I; Eymard, Bruno B; Francannet, Christine C; Grotto, Sarah S; Lacombe, Didier D; Laffargue, Fanny F; Legendre, Marine M; Martin-Coignard, Dominique D; Mégarbané, André A; Mercier, Sandra S; Nizon, Mathilde M; Rigonnot, Luc L; Prieur, Fabienne F; Quélin, Chloé C; Ranjatoelina-Randrianaivo, Hanitra H; Resta, Nicoletta N; Toutain, Annick A; Verhelst, Helene H; Vincent, Marie M; Colin, Estelle E; Fallet-Bianco, Catherine C; Granier, Michèle M; Grigorescu, Romulus R; Saada, Julien J; Gonzales, Marie M; Guiochon-Mantel, Anne A; Bessereau, Jean-Louis JL; Tawk, Marcel M; Gut, Ivo I; Gitiaux, Cyril C; Melki, Judith J
Publication Date: 2022-06

Variant appearance in text: RYR1: 7373G>A; Arg2458His; rs121918594
PubMed Link: 33820833
Variant Present in the following documents:
  • jmedgenet-2020-107595supp001.xlsx, sheet 1
View BVdb publication page



Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17

Variant appearance in text: RYR1: 7373G>A; Arg2458His
PubMed Link: 33726816
Variant Present in the following documents:
  • 13073_2021_855_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02

Variant appearance in text: RYR1: 7373G>A; rs121918594
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s003.xlsx, sheet 1
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: RYR1: 7373G>A; Arg2458His
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
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: RYR1: 7373G>A; R2458H
PubMed Link: 32528171
Variant Present in the following documents:
  • 41436_2020_840_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Orphanet Journal Of Rare Diseases
Lawal, Tokunbor A TA; Wires, Emily S ES; Terry, Nancy L NL; Dowling, James J JJ; Todd, Joshua J JJ
Publication Date: 2020-05-07

Variant appearance in text: RYR1: R2458H
PubMed Link: 32381029
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function.

Frontiers In Genetics
Graham, Brittany B; Shaw, Marie-Anne MA; Hope, Ian A IA
Publication Date: 2020

Variant appearance in text: RYR1: R2458H
PubMed Link: 32174957
Variant Present in the following documents:
  • Main text
  • fgene-11-00037.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: RYR1: 7373G>A; Arg2458His; rs121918594
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
  • pgen.1008409.s003.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Neurology. Genetics
Rubegni, Anna A; Malandrini, Alessandro A; Dosi, Claudia C; Astrea, Guja G; Baldacci, Jacopo J; Battisti, Carla C; Bertocci, Giulia G; Donati, M Alice MA; Dotti, M Teresa MT; Federico, Antonio A; Giannini, Fabio F; Grosso, Salvatore S; Guerrini, Renzo R; Lenzi, Sara S; Maioli, Maria A MA; Melani, Federico F; Mercuri, Eugenio E; Sacchini, Michele M; Salvatore, Simona S; Siciliano, Gabriele G; Tolomeo, Deborah D; Tonin, Paola P; Volpi, Nila N; Santorelli, Filippo M FM; Cassandrini, Denise D
Publication Date: 2019-10

Variant appearance in text: RYR1: 7373G>A; Arg2458His
PubMed Link: 31517061
Variant Present in the following documents:
  • NG2019010587.pdf
View BVdb publication page



Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Clinical Pharmacology And Therapeutics
Gonsalves, Stephen G SG; Dirksen, Robert T RT; Sangkuhl, Katrin K; Pulk, Rebecca R; Alvarellos, Maria M; Vo, Teresa T; Hikino, Keiko K; Roden, Dan D; Klein, Teri E TE; Poler, S Mark SM; Patel, Sephalie S; Caudle, Kelly E KE; Gordon, Ronald R; Brandom, Barbara B; Biesecker, Leslie G LG
Publication Date: 2019-06

Variant appearance in text: RYR1: Arg2458His
PubMed Link: 30499100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic epidemiology of malignant hyperthermia in the UK.

British Journal Of Anaesthesia
Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM
Publication Date: 2018-10

Variant appearance in text: RYR1: 7373G>A; Arg2458His
PubMed Link: 30236257
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.

Journal Of Clinical Neurology (Seoul, Korea)
Jeong, Ha Neul HN; Park, Hyung Jun HJ; Lee, Jung Hwan JH; Shin, Ha Young HY; Kim, Se Hoon SH; Kim, Seung Min SM; Choi, Young Chul YC
Publication Date: 2018-01

Variant appearance in text: RYR1: 7373G>A
PubMed Link: 29629541
Variant Present in the following documents:
  • jcn-14-58.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: RYR1: 7373G>A; Arg2458His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW
Publication Date: 2017-12

Variant appearance in text: RYR1: R2458H; rs121918594
PubMed Link: 28471432
Variant Present in the following documents:
  • gim201750x2.xlsx, sheet 3
View BVdb publication page



Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery.

European Journal Of Translational Myology
Lavorato, Manuela M; Gupta, Pawan K PK; Hopkins, Philip M PM; Franzini-Armstrong, Clara C
Publication Date: 2016-09-15

Variant appearance in text: RYR1: R2458H
PubMed Link: 28078069
Variant Present in the following documents:
  • Main text
  • ejtm-2016-4-6105.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: MHS1: R2458H
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics.

Pharmacogenetics And Genomics
Alvarellos, Maria L ML; McDonagh, Ellen M EM; Patel, Sephalie S; McLeod, Howard L HL; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2015-12

Variant appearance in text: MHS: 7373G>A; rs121918594
PubMed Link: 26398623
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: RYR1: R2458H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.

Nature
Yan, Zhen Z; Bai, Xiaochen X; Yan, Chuangye C; Wu, Jianping J; Li, Zhangqiang Z; Xie, Tian T; Peng, Wei W; Yin, Changcheng C; Li, Xueming X; Scheres, Sjors H W SHW; Shi, Yigong Y; Yan, Nieng N
Publication Date: 2015-01-01

Variant appearance in text: MHS1: R2458H
PubMed Link: 25517095
Variant Present in the following documents:
  • NIHMS61019-supplement-Supplementary_Table_1.pdf
View BVdb publication page



Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet Journal Of Rare Diseases
Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ
Publication Date: 2013-08-06

Variant appearance in text: RYR1: 7373G>A
PubMed Link: 23919265
Variant Present in the following documents:
  • 1750-1172-8-117-S1.xlsx, sheet 1
View BVdb publication page



Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.

Molecular Genetics And Metabolism
Vladutiu, Georgirene D GD; Isackson, Paul J PJ; Kaufman, Kenneth K; Harley, John B JB; Cobb, Beth B; Christopher-Stine, Lisa L; Wortmann, Robert L RL
Publication Date: 2011

Variant appearance in text: RYR1: R2458H
PubMed Link: 21795085
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.

Biophysical Journal
Dirksen, Robert T RT; Avila, Guillermo G
Publication Date: 2004-11

Variant appearance in text: MHS: R2458H
PubMed Link: 15347586
Variant Present in the following documents:
  • Main text
View BVdb publication page