ClinVar Genomic variation as it relates to human health
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)
Variation ID: 53052 Accession: VCV000053052.23
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p15.5 11: 2570652 (GRCh38) [ NCBI UCSC ] 11: 2591882 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jun 3, 2016 Feb 20, 2024 Dec 22, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000218.3:c.502G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000209.2:p.Gly168Arg missense NM_001406836.1:c.502G>A NP_001393765.1:p.Gly168Arg missense NM_001406837.1:c.232G>A NP_001393766.1:p.Gly78Arg missense NM_181798.2:c.121G>A NP_861463.1:p.Gly41Arg missense NR_040711.2:n.395G>A NC_000011.10:g.2570652G>A NC_000011.9:g.2591882G>A NG_008935.1:g.130662G>A LRG_287:g.130662G>A LRG_287t1:c.502G>A LRG_287p1:p.Gly168Arg LRG_287t2:c.121G>A LRG_287p2:p.Gly41Arg P51787:p.Gly168Arg - Protein change
- G168R, G41R, G78R
- Other names
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- Canonical SPDI
- NC_000011.10:2570651:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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KCNQ1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1648 | 2513 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
criteria provided, single submitter
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Oct 2, 2023 | RCV000057684.10 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Dec 22, 2023 | RCV000046066.20 | |
Pathogenic (2) |
criteria provided, single submitter
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Feb 7, 2020 | RCV000223900.13 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 1, 2013 | RCV000234807.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 27, 2021 | RCV000588586.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 21, 2023 | RCV001841646.11 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jan 01, 2013)
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criteria provided, single submitter
Method: research
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Long QT syndrome, LQT1 subtype
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
Study: Life Threatening Long QT Syndromes
Accession: SCV000240226.2 First in ClinVar: Jul 01, 2016 Last updated: Jul 01, 2016 |
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: Indian
Geographic origin: India
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Pathogenic
(Sep 08, 2020)
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criteria provided, single submitter
Method: clinical testing
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Long QT syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695988.2
First in ClinVar: Mar 17, 2018 Last updated: Oct 07, 2020 |
Comment:
Variant summary: KCNQ1 c.502G>A (p.Gly168Arg) results in a non-conservative amino acid change located in the Ion transport domain (IPR005821) of the encoded protein sequence. Five … (more)
Variant summary: KCNQ1 c.502G>A (p.Gly168Arg) results in a non-conservative amino acid change located in the Ion transport domain (IPR005821) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 252834 control chromosomes. c.502G>A has been reported in the literature in multiple individuals affected with Long QT Syndrome (e.g. Splawski_1998, Beery_2003, Chung_2007, Summers_2010, Giudicessi_2012), including multi-generational families in which the variant segregated with disease. These data indicate that the variant is very likely to be associated with disease. Several publications report experimental evidence indicating that the variant alters potassium channel activity (e.g. Barsheshet_2012, Jons_2011). Four other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Oct 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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Congenital long QT syndrome
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV004037449.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
Clinical Features:
Prolonged QT interval (present)
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Pathogenic
(Feb 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiac arrhythmia
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV001344630.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces glycine with arginine at codon 168 in the transmembrane domain of the KCNQ1 protein. Computational prediction suggests that this variant may … (more)
This missense variant replaces glycine with arginine at codon 168 in the transmembrane domain of the KCNQ1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have shown that this variant changes potassium channel current (PMID: 21451124, 22456477). This variant has been reported in multiple individuals affected with long QT syndrome (PMID: 19490272, 19716085, 26318259, 26681611, 27921062, 28794082, 29952348, 14531214, 20186784). It has been shown that this variant segregates with long QT syndrome in numerous individuals from multiple families (PMID: 14531214, 20186784, 21451124, 26318259). This variant has also been reported in the homozygous state in a few individuals affected with Jervell and Lange-Nielsen syndrome (PMID: 17091796, 27041150, 27485560). This variant has been identified in 3/249646 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Dec 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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Long QT syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000074079.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 168 of the KCNQ1 protein (p.Gly168Arg). … (more)
This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 168 of the KCNQ1 protein (p.Gly168Arg). This variant is present in population databases (rs179489, gnomAD 0.003%). This missense change has been observed in individuals with long QT syndrome (PMID: 9693036, 10973849, 17905336, 19841300, 23130128). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 53052). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KCNQ1 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects KCNQ1 function (PMID: 19490272). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Aug 27, 2021)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000736265.4
First in ClinVar: Mar 17, 2018 Last updated: Nov 29, 2022 |
Comment:
The p.G168R pathogenic mutation (also known as c.502G>A), located in coding exon 3 of the KCNQ1 gene, results from a G to A substitution at … (more)
The p.G168R pathogenic mutation (also known as c.502G>A), located in coding exon 3 of the KCNQ1 gene, results from a G to A substitution at nucleotide position 502. The glycine at codon 168 is replaced by arginine, an amino acid with dissimilar properties, and is located in the S2 transmembrane region of the protein. This alteration, and another nucleotide substitution resulting in the same amino acid change (c.502G>C), has been detected in multiple unrelated, heterozygous individuals reported to have long QT syndrome (LQTS), has been reported to segregate with LQTS in multiple families, and has been reported in the homozygous and compound heterozygous states in individuals with Jervell and Lange-Nielsen syndrome (Donger C et al. Circulation. 1997;96(9):2778-81; Splawski et al. Genomics. 1998;51(1):86-97; Splawski I et al. Circulation. 2000;102(10):1178-85; Márquez MF et al. Arch Cardiol Mex. 2006;76(3):257-62; Kapplinger JD et al. Heart Rhythm. 2009;6(9):1297-303; Summers KM et al. Am J Med Genet. 2010;152A(3):613-21; Vyas B. Am. J Med Genet A. 2016;170(6):1510-9; Sato A et al. Int Heart J. 2019 Sep;60(5):1206-1210; Lorca R et al. J Clin Med. 2020 Nov;9(12)). This alteration has been reported to result in loss of ion channel function in an in vitro assay (Westenskow P et al. Circulation. 2004;109(15):1834-41). In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(Feb 07, 2020)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000234379.7
First in ClinVar: Jul 05, 2015 Last updated: Mar 04, 2023 |
Comment:
Observed in multiple unrelated individuals with LQTS referred for genetic testing at GeneDx and in the published literature (for examples, see Splawski et al., 1998; … (more)
Observed in multiple unrelated individuals with LQTS referred for genetic testing at GeneDx and in the published literature (for examples, see Splawski et al., 1998; Jongbloed et al., 2002; Kapplinger et al., 2009; Yoshinaga et al., 2018); Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate G168R (nucleotide change not specified) impairs potassium ion channel function (Westenskow et al., 2004; Jons et al., 2011; Barshesshet et al, 2012); Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 53052; ClinVar); This variant is associated with the following publications: (PMID: 14678125, 26318259, 10973849, 25479336, 14531214, 12402336, 15840476, 17905336, 19716085, 24103226, 26681611, 19490272, 23995044, 21185501, 20186784, 17091796, 24667783, 27485560, 27041150, 12566525, 29952348, 17470695, 23130128, 22949429, 9693036, 19841300, 23124029, 29330128, 15051636, 22456477, 21451124, 31737537, 34319147, 33256261, 32665702, 34135346, 33087929) (less)
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Pathogenic
(Nov 13, 2013)
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no assertion criteria provided
Method: clinical testing
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Not provided
Affected status: not provided
Allele origin:
germline
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Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280154.1
First in ClinVar: Jun 03, 2016 Last updated: Jun 03, 2016 |
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)
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 data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. KCNQ1 p.Gly168Arg The Gly168Arg mutation in KCNQ1 has been reported multiple times in association with autosomal dominant long QT syndrome, and in vitro analysis has shown it to cause complete loss of potassium channel function. Strong segregation data comes from Beery et al. (2003). Gly168Arg segregated with disease in all 7 affected members of an LQTS family (from 4 generations). Gly168Arg is a chemically nonconservative amino acid change. It substitutes the smallest, nonpolar amino acid Glycine, which lacks a carbon side chain, with the bulkier positively-charged amino acid side chain of Arginine. The Glycine at position 168 is highly conserved across species. In silico analysis predicts the variant to be “probably damaging” (PolyPhen) and “deleterious” (SIFT). This variant has been reported in over 32 unrelated individuals with LQTS. It is not present in 1800 reported controls, nor in ~6450 individuals in the NHLBI ESP project. Donger et al. (1997) found this mutation in 5 individuals in one French family affected by LQT1. Four of these family members, as a group, had a mean QTc of 477+24 msec, while the fifth died suddenly before age 40. The Gly168Arg mutation was absent in 200 control alleles. Splawski et al. (2000) reported this variant in 7 out of 262 unrelated European and American probands with LQTS; it was absent from more than 400 control alleles. Jongbloed et al. (2002) identified 1 Gly168Arg variant among 32 Dutch and Belgian index patients; they report that a variant was classified as pathogenic if it “segregated with the disease in the family” and was absent from 100 control chromosomes. Van Langen et al. (2003) found Gly168Arg in 1 out of 40 consecutive, unrelated LQTS patients from the Netherlands and Belgium; it was absent from 100 control alleles. Westenskow et al. (2004) reported a family affected by 2 LQTS variants, of which Gly168Arg was one. The family member carrying Gly168Arg alone had a QTc in the normal range (440) and no history of syncope, while two family members who carried both variants had prolonged QTc (480 and 510) and syncope. Therefore, this particular study does not add convincing clinical evidence of pathogenicity. However, it does include in-vitro biophysical data, showing that Gly168Arg causes complete loss of channel function. Tester et al. (2005) reported the variant in 2 of 541 consecutive, unrelated patients referred to Mayo Clinic’s Sudden Death Genomics Laboratory for LQTS genetic testing. Moss et al. (2007) did an outcome study of 600 KCNQ1-variant-carrying patients (from 101 families) included in the US portion of the International LQTS Registry (n=425), the Netherlands’ LQTS Registry (n=93), and the Japanese LQTS Registry (n=82), and 44 of these 600 patients had the Gly168Arg variant. This made Gly168Arg the second-most common variant represented in the study. Chung et al. (2007) found it in 1 of 84 consecutive LQTS index cases tested in New Zealand (but not in 100 control chromosomes); she had a QTc of 500 msec, a history of syncope, and a first-degree relative who had died suddenly. Kapplinger et al. (2009) reported the Gly168Arg variant in 15 out of 2500 unrelated individuals diagnosed with LQTS and consecutively referred for genetic testing through PGxHealth; they did not find the variant in more than 2,600 reference alleles from individuals of diverse ethnicity (47% Caucasian, 26% African American, 11% Hispanic, 10% Asian, and 6% unknown/other). The variant has also been reported by Marquez et al. (2006) in a homozygous state in two affected siblings, from a Mexican family, diagnosed with Jervell and Lange-Nielsen Syndrome—a recessive form of LQTS accompanied by deafness. Their mother, a heterozygote, had a prolonged QTc interval without deafness. The variant was absent from 100 healthy control alleles. Variation at Glycine 168 is absent from the NHLBI Exome Sequencing Project database as of October 9, 2012. This database includes sequence information on approximately 4250 Caucasian and 2200 African American individuals. Nor is it present in 1000 Genomes as of October 9, 2012. It is listed in dbSNP as pathogenic: rs179489. (less)
Number of individuals with the variant: 10
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not provided
(-)
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no classification provided
Method: literature only
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Congenital long QT syndrome
Affected status: unknown
Allele origin:
germline
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Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
Accession: SCV000089203.3
First in ClinVar: Oct 22, 2013 Last updated: Oct 09, 2016 |
Comment:
This variant has been reported as associated with Long QT syndrome in the following publications (PMID:20186784;PMID:9693036;PMID:12402336;PMID:10973849;PMID:19716085;PMID:15051636;PMID:17905336;PMID:15840476;PMID:14678125;PMID:12566525;PMID:19841300;PMID:9386136). This is a literature report, and does not necessarily … (more)
This variant has been reported as associated with Long QT syndrome in the following publications (PMID:20186784;PMID:9693036;PMID:12402336;PMID:10973849;PMID:19716085;PMID:15051636;PMID:17905336;PMID:15840476;PMID:14678125;PMID:12566525;PMID:19841300;PMID:9386136). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory. (less)
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Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome. | Lorca R | Journal of clinical medicine | 2020 | PMID: 33256261 |
Replacement of an Implantable Cardioverter-Defibrillator (ICD) with a New Standard Subcutaneous ICD System in a Patient with Jervell and Lange-Nielsen Syndrome. | Sato A | International heart journal | 2019 | PMID: 31484877 |
Autonomic Function and QT Interval During Night-Time Sleep in Infant Long QT Syndrome. | Yoshinaga M | Circulation journal : official journal of the Japanese Circulation Society | 2018 | PMID: 29952348 |
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation? | Roberts JD | Circulation. Arrhythmia and electrophysiology | 2017 | PMID: 28794082 |
Long QT Syndrome and Duodenal Ampullary Adenoma: A New Association. | Asad-Ur-Rahman FN | ACG case reports journal | 2016 | PMID: 27921062 |
Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes. | Vyas B | Indian pacing and electrophysiology journal | 2016 | PMID: 27485560 |
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. | Vyas B | American journal of medical genetics. Part A | 2016 | PMID: 27041150 |
Implantable cardioverter-defibrillator explantation for overdiagnosed or overtreated congenital long QT syndrome. | Gaba P | Heart rhythm | 2016 | PMID: 26681611 |
Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1. | Ruwald MH | Heart rhythm | 2016 | PMID: 26318259 |
Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome. | Couderc JP | Journal of the American Heart Association | 2012 | PMID: 23130128 |
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. | Giudicessi JR | Circulation. Cardiovascular genetics | 2012 | PMID: 22949429 |
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. | Barsheshet A | Circulation | 2012 | PMID: 22456477 |
Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients. | Jons C | Science translational medicine | 2011 | PMID: 21451124 |
Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing. | Summers KM | American journal of medical genetics. Part A | 2010 | PMID: 20186784 |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. | Kapa S | Circulation | 2009 | PMID: 19841300 |
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 |
Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome. | Jons C | Journal of cardiovascular electrophysiology | 2009 | PMID: 19490272 |
Long QT and Brugada syndrome gene mutations in New Zealand. | Chung SK | Heart rhythm | 2007 | PMID: 17905336 |
[KCNQ 1 (KvLQT1) missense mutation causing congenital long QT syndrome (Jervell-Lange-Nielsen) in a Mexican family]. | Márquez MF | Archivos de cardiologia de Mexico | 2006 | PMID: 17091796 |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. | Tester DJ | Heart rhythm | 2005 | PMID: 15840476 |
Compound mutations: a common cause of severe long-QT syndrome. | Westenskow P | Circulation | 2004 | PMID: 15051636 |
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. | Zareba W | Journal of cardiovascular electrophysiology | 2003 | PMID: 14678125 |
A candidate locus approach identifies a long QT syndrome gene mutation. | Beery TA | Biological research for nursing | 2003 | PMID: 14531214 |
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. | Van Langen IM | Journal of medical genetics | 2003 | PMID: 12566525 |
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. | Jongbloed R | Human mutation | 2002 | PMID: 12402336 |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. | Splawski I | Circulation | 2000 | PMID: 10973849 |
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. | Splawski I | Genomics | 1998 | PMID: 9693036 |
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. | Donger C | Circulation | 1997 | PMID: 9386136 |
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Text-mined citations for rs179489 ...
HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.