NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) AND Developmental and epileptic encephalopathy, 7

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 19, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000178400.7

Allele description [Variation Report for NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)]

NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)

Gene:

KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

Preferred name:

NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)

Other names:

p.R213W:CGG>TGG

HGVS:

NC_000020.11:g.63444712G>A
NG_009004.2:g.32929C>T
NM_004518.6:c.637C>T
NM_172106.3:c.637C>T
NM_172107.4:c.637C>TMANE SELECT
NM_172108.5:c.637C>T
NM_172109.3:c.637C>T
NP_004509.2:p.Arg213Trp
NP_742104.1:p.Arg213Trp
NP_742105.1:p.Arg213Trp
NP_742106.1:p.Arg213Trp
NP_742107.1:p.Arg213Trp
NC_000020.10:g.62076065G>A
NM_004518.4:c.637C>T
NM_172107.2:c.637C>T
NM_172107.3:c.637C>T

Protein change:

R213W

Links:

dbSNP: rs118192203

NCBI 1000 Genomes Browser:

rs118192203

Molecular consequence:

NM_004518.6:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172106.3:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172107.4:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172108.5:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172109.3:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 7 (DEE7)
Synonyms:: Early infantile epileptic encephalopathy 7; KCNQ2-Related Neonatal Epileptic Encephalopathy
Identifiers:: MONDO: MONDO:0013387; MedGen: C3150986; Orphanet: 439218; OMIM: 613720

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000041649	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 18353052, 23440208, 25959266
SCV000700169	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 2, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001934249	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 19, 2020)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000041649

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

SCV000700169

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 2, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001934249

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 19, 2020)

de novo

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.

Sadewa AH, Sasongko TH; Gunadi., Lee MJ, Daikoku K, Yamamoto A, Yamasaki T, Tanaka S, Matsuo M, Nishio H.

Pediatr Int. 2008 Apr;50(2):167-71. doi: 10.1111/j.1442-200X.2008.02539.x. Erratum in: Pediatr Int. 2015 Feb;57(1):194. Pediatr Int. 2015 Feb;57(1):194.

PubMed [citation]

PMID:: 18353052

Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.

Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Migliore M, Cilio MR, Taglialatela M.

Proc Natl Acad Sci U S A. 2013 Mar 12;110(11):4386-91. doi: 10.1073/pnas.1216867110. Epub 2013 Feb 25.

PubMed [citation]

PMID:: 23440208
PMCID:: PMC3600471

See all PubMed Citations (4)

Details of each submission

From GeneReviews, SCV000041649.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

BFNE (benign familial neonatal epilepsy), EE (epileptic encephalopathy)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000700169.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001934249.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was identified as de novo (maternity and paternity confirmed).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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