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NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 8, 2020
Accession:
VCV000053090.5
Variation ID:
53090
Description:
single nucleotide variant
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NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)

Allele ID
67758
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2572053 (GRCh38) GRCh38 UCSC
11: 2593283 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P51787:p.Asp242Asn
NC_000011.10:g.2572053G>A
NC_000011.9:g.2593283G>A
... more HGVS
Protein change
D242N, D115N
Other names
p.D242N:GAC>AAC
Canonical SPDI
NC_000011.10:2572052:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA007986
UniProtKB: P51787#VAR_008940
dbSNP: rs199472712
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 8, 2020 RCV000046110.5
Pathogenic 2 criteria provided, single submitter Apr 12, 2018 RCV000182103.7
Likely pathogenic 1 no assertion criteria provided Jul 14, 2017 RCV000656159.1
not provided 1 no assertion provided - RCV000057738.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNQ1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1161 1427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 08, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000074123.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces aspartic acid with asparagine at codon 242 of the KCNQ1 protein (p.Asp242Asn). The aspartic acid residue is highly conserved and there … (more)
Pathogenic
(Apr 12, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234406.13
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The D242N pathogenic variant in the KCNQ1 gene has been reported in association with LQTS (Itoh et al., 1998; Splawski et al., 2000; Moss et … (more)
Likely pathogenic
(Jan 20, 2014)
no assertion criteria provided
Method: clinical testing
Not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280161.1
Submitted: (May 06, 2016)
Evidence details
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)
Likely pathogenic
(Jul 14, 2017)
no assertion criteria provided
Method: research
Wolff-Parkinson-White pattern
Allele origin: inherited
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
Study: Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome
Accession: SCV000678353.1
Submitted: (Aug 26, 2017)
Evidence details
Comment:
This variant was identified in an individual with Wolff-Parkinson-White syndrome
not provided
(-)
no assertion provided
Method: literature only
Congenital long QT syndrome
Allele origin: germline
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust
Accession: SCV000089257.3
Submitted: (Sep 22, 2016)
Evidence details
Publications
PubMed (5)
Comment:
This variant has been reported as associated with Long QT syndrome in the following publications (PMID:9799083;PMID:15840476;PMID:19716085;PMID:17470695). This is a literature report, and does not necessarily … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening. Hou P Nature communications 2017 PMID: 29167462
D242N, a K<sub>V</sub>7.1 LQTS mutation uncovers a key residue for I<sub>Ks</sub> voltage dependence. Moreno C Journal of molecular and cellular cardiology 2017 PMID: 28739325
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. Mousavi Nik A Frontiers in cellular neuroscience 2015 PMID: 25705178
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Kapplinger JD Heart rhythm 2009 PMID: 19716085
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Moss AJ Circulation 2007 PMID: 17470695
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Tester DJ Heart rhythm 2005 PMID: 15840476
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. Itoh T Human genetics 1998 PMID: 9799083

Text-mined citations for rs199472712...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021