SCN1A c.707T>C ;(p.I236T)

Variant ID: 2-166908486-A-G

NM_001165963.1(SCN1A):c.707T>C;(p.I236T)

This variant was identified in 13 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: SCN1A: I236T; rs886039464
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: SCN1A: 707T>C; Ile236Thr
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: SCN1A: 707T>C; I236T
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: SCN1A: I236T
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: SCN1A: I236T
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN1A: I236T
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Frontiers In Neurology
Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T
Publication Date: 2021

Variant appearance in text: SCN1A: Ile236Thr
PubMed Link: 35002916
Variant Present in the following documents:
  • Main text
  • fneur-12-743726.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: SCN1A: 707T>C; Ile236Thr; rs886039464
PubMed Link: 33820833
Variant Present in the following documents:
  • jmedgenet-2020-107595supp001.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: SCN1A: 707T>C; I236T
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.

Journal Of Medical Genetics
Jaber, Dana D; Gitiaux, Cyril C; Blesson, Sophie S; Marguet, Florent F; Buard, David D; Varela Salgado, Maritzaida M; Kaminska, Anna A; Saada, Julien J; Fallet-Bianco, Catherine C; Martinovic, Jelena J; Laquerriere, Annie A; Melki, Judith J
Publication Date: 2021-11

Variant appearance in text: SCN1A: 707T>C; rs886039464
PubMed Link: 32928894
Variant Present in the following documents:
  • Main text
  • jmedgenet-2020-107166.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: SCN1A: 707T>C; Ile236Thr
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: SCN1A: 707T>C
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: SCN1A: 707T>C
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page