NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) AND Long QT syndrome 1

Germline classification:: Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:: Aug 1, 2023
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:: RCV000240642.8

Allele description [Variation Report for NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)]

NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)

Gene:

KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)

Other names:

p.R231C:CGC>TGC

HGVS:

NC_000011.10:g.2572020C>T
NG_008935.1:g.132030C>T
NM_000218.3:c.691C>TMANE SELECT
NM_001406836.1:c.691C>T
NM_001406837.1:c.421C>T
NM_181798.2:c.310C>T
NP_000209.2:p.Arg231Cys
NP_000209.2:p.Arg231Cys
NP_001393765.1:p.Arg231Cys
NP_001393766.1:p.Arg141Cys
NP_861463.1:p.Arg104Cys
NP_861463.1:p.Arg104Cys
LRG_287t1:c.691C>T
LRG_287t2:c.310C>T
LRG_287:g.132030C>T
LRG_287p1:p.Arg231Cys
LRG_287p2:p.Arg104Cys
NC_000011.9:g.2593250C>T
NM_000218.2:c.691C>T
NM_181798.1:c.310C>T
NR_040711.2:n.584C>T
P51787:p.Arg231Cys

Protein change:

R104C

Links:

UniProtKB: P51787#VAR_074956; dbSNP: rs199473457

NCBI 1000 Genomes Browser:

rs199473457

Molecular consequence:

NM_000218.3:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406836.1:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406837.1:c.421C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181798.2:c.310C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Long QT syndrome 1 (LQT1)
Identifiers:: MONDO: MONDO:0100316; MedGen: C4551647; Orphanet: 101016; Orphanet: 768; OMIM: 192500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000299261	Center for Medical Genetics Ghent, University of Ghent	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 17, 2016)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 14998624, 12205790, 22613981, 15176425, 20850564, 16922724, 19716085, 19843919, 25741868
SCV000583963	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	criteria provided, single submitter (HA_PGEN_assertions_20170620)	Pathogenic (Jan 12, 2017)	unknown	research	HA_PGEN_assertions_20170620.pdf, Citation Link,
SCV002581349	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 8, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004024176	Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 1, 2023)	germline	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	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.

Lupoglazoff JM, Denjoy I, Villain E, Fressart V, Simon F, Bozio A, Berthet M, Benammar N, Hainque B, Guicheney P.

J Am Coll Cardiol. 2004 Mar 3;43(5):826-30.

PubMed [citation]

PMID:: 14998624

[Congenital long QT syndrome in newborns].

Emeriaud G, Douchin S, Jouk PS, Andrini P, Wroblewski I, Marey C, Rossignol AM.

Arch Pediatr. 2002 Aug;9(8):805-9. French.

PubMed [citation]

PMID:: 12205790

See all PubMed Citations (9)

Details of each submission

From Center for Medical Genetics Ghent, University of Ghent, SCV000299261.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

#	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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology, SCV000583963.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	not provided

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

From MGZ Medical Genetics Center, SCV002581349.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes, SCV004024176.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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