ClinVar Genomic variation as it relates to human health
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)
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.535G>A (p.Gly179Ser)
Variation ID: 53063 Accession: VCV000053063.54
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p15.5 11: 2570685 (GRCh38) [ NCBI UCSC ] 11: 2591915 (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 Dec 6, 2014 Apr 15, 2024 Feb 29, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000218.3:c.535G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000209.2:p.Gly179Ser missense NM_001406836.1:c.535G>A NP_001393765.1:p.Gly179Ser missense NM_001406837.1:c.265G>A NP_001393766.1:p.Gly89Ser missense NM_181798.2:c.154G>A NP_861463.1:p.Gly52Ser missense NR_040711.2:n.428G>A NC_000011.10:g.2570685G>A NC_000011.9:g.2591915G>A NG_008935.1:g.130695G>A LRG_287:g.130695G>A LRG_287t1:c.535G>A LRG_287p1:p.Gly179Ser LRG_287t2:c.154G>A LRG_287p2:p.Gly52Ser P51787:p.Gly179Ser - Protein change
- G179S, G52S, G89S
- Other names
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- Canonical SPDI
- NC_000011.10:2570684: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) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
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
Help
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
Help
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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Mar 15, 2019 | RCV000057694.15 | |
Pathogenic (3) |
criteria provided, single submitter
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Jan 21, 2024 | RCV000148544.15 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Dec 10, 2021 | RCV000234794.12 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jan 1, 2024 | RCV000505781.23 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 17, 2020 | RCV000620835.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 22, 2023 | RCV001841648.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 29, 2024 | RCV003982867.1 |
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
Help
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, 2014)
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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: SCV000240227.2 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
(Dec 19, 2019)
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criteria provided, single submitter
Method: research
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Long QT syndrome 1
Affected status: unknown
Allele origin:
unknown
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HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: AGHI_GT
Accession: SCV001192817.1 First in ClinVar: Mar 29, 2020 Last updated: Mar 29, 2020 |
Number of individuals with the variant: 1
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Pathogenic
(Mar 15, 2019)
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criteria provided, single submitter
Method: clinical testing
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Congenital long QT syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000711392.2
First in ClinVar: Oct 09, 2016 Last updated: Jul 03, 2020 |
Comment:
The p.Gly179Ser variant in KCNQ1 has been reported in the heterozygous state in at least 3 individuals with autosomal dominant long QT syndrome (LQTS), one … (more)
The p.Gly179Ser variant in KCNQ1 has been reported in the heterozygous state in at least 3 individuals with autosomal dominant long QT syndrome (LQTS), one of whom had a more severe phenotype and carried a presumed pathogenic variant in another LQTS gene (Splawski 2000, Kapplinger 2009, Fernandes 2015, Natarajan 2016). It has also been reported in the homozygous or compound heterozygous state in 4 individuals with severe autosomal recessive LQTS (AR-LQTS) and segregated with AR-LQTS in 3 affected relatives from 2 families (Westenskow 2004, Giudicessi 2013, Vyas 2016, Bdier 2017). Individuals with AR-LQTS typically had a more severe phenotype with an earlier age of onset than heterozygotes, but none were reported to have hearing loss. Relatives of these individuals who were heterozygous carriers of this variant were often clinically asymptomatic or had modestly prolonged QT interval; however 1 heterozygous carrier experienced sudden cardiac death (Westenskow 2004, Giudicessi 2013, Bdier 2017), suggesting reduced penetrance and variable expressivity for the autosomal dominant form of LQTS associated with this variant. In vitro functional studies and computational prediction tools support an impact on protein function (Westenskow 2004, Huang 2018). This variant has been reported by other clinical laboratories in ClinVar (Variation ID 53063) and was absent from large population studies. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant and autosomal recessive LQTS. ACMG/AMP Criteria applied: PM3_Strong, PM2, PP1_Moderate, PP3, PS3_Supporting, PS4_Supporting. (less)
Number of individuals with the variant: 2
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Pathogenic
(Dec 10, 2021)
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criteria provided, single submitter
Method: clinical testing
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Long QT syndrome 1
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002579787.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
Number of individuals with the variant: 1
Sex: female
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Pathogenic
(Dec 13, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV003820896.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Feb 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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KCNQ1-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004800588.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The KCNQ1 c.535G>A variant is predicted to result in the amino acid substitution p.Gly179Ser. This variant has been reported in the heterozygous, compound heterozygous, and … (more)
The KCNQ1 c.535G>A variant is predicted to result in the amino acid substitution p.Gly179Ser. This variant has been reported in the heterozygous, compound heterozygous, and homozygous states in individuals and families with long QT syndrome, although heterozygous carriers have been described as asymptomatic (see, for example, Splawski et al. 2000. PubMed ID: 10973849; Westenskow et al. 2004. PubMed ID: 15051636; Al-Hassnan et al. 2017. PubMed ID: 28438721; Table S1, Westphal et al. 2020. PubMed ID: 32383558; Table S1, Schwartz et al. 2021. PubMed ID: 34505893). In vitro functional studies suggest this variant impacts protein function (Westenskow et al. 2004. PubMed ID: 15051636; Huang et al. 2018. PubMed ID: 29532034). This variant has not been reported in a large population database, indicating it is rare. This variant is interpreted as pathogenic. (less)
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Pathogenic
(Jan 17, 2020)
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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: SCV000737634.4
First in ClinVar: Apr 14, 2018 Last updated: Nov 29, 2022 |
Comment:
The p.G179S pathogenic mutation (also known as c.535G>A), located in coding exon 3 of the KCNQ1 gene, results from a G to A substitution at … (more)
The p.G179S pathogenic mutation (also known as c.535G>A), located in coding exon 3 of the KCNQ1 gene, results from a G to A substitution at nucleotide position 535. The glycine at codon 179 is replaced by serine, an amino acid with similar properties. This alteration has been detected in the heterozygous, homozygous, and compound heterozygous state in numerous unrelated individuals with longQT syndrome (LQTS) (Splawski I, Circulation 2000 Sep; 102(10):1178-85; Kapplinger JD, Heart Rhythm 2009 Sep; 6(9):1297-303; Anderson HN, Pediatr Cardiol 2015 Oct; 36(7):1350-6; Fernandes M et al. Rev Port Cardiol, 2015 May;34:359.e1-5; Natarajan P et al. Sci Transl Med, 2016 11;8:364ra151; Al-Hassnan ZN et al. Heart Rhythm, 2017 08;14:1191-1199). The alteration has been reported to segregate with disease in multiple families, with homozygous and compound heterozygous individuals typically displaying more pronounced prolongation of the QT interval compared with heterozyous relatives (Westenskow P et al. Circulation, 2004 Apr;109:1834-41; Giudicessi JR et al. Circ Cardiovasc Genet, 2013 Apr;6:193-200; Vyas B et al. Am. J. Med. Genet. A, 2016 06;170:1510-9; Bdier AY et al. Mol Genet Genomic Med, 2017 Sep;5:592-601). Several functional studies indicate that this alteration results in a trafficking defect and reduced potassium current in heterologous expression systems (Westenskow P et al. Circulation, 2004 Apr;109:1834-41; Huang H et al. Sci Adv, 2018 03;4:eaar2631). 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
(Dec 07, 2022)
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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: SCV000234385.8
First in ClinVar: Jul 05, 2015 Last updated: Mar 18, 2023 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; … (more)
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In vitro functional studies demonstrate loss of function with a trafficking defect and severely reduced cell surface expression (Huang et al., 2018); This variant is associated with the following publications: (PMID: 34505893, 25637381, 15051636, 25845942, 19716085, 23392653, 25935074, 27041150, 28944242, 28438721, 28606196, 29684900, 30571187, 10973849, 27485560, 29021305, 31785541, 31447099, 32383558, 27831900, 29532034) (less)
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Pathogenic
(Feb 22, 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: SCV001352304.4
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces glycine with serine at codon 179 in the cytoplasmic linker region between transmembrane domains S2 and S3 of the KCNQ1 protein. … (more)
This missense variant replaces glycine with serine at codon 179 in the cytoplasmic linker region between transmembrane domains S2 and S3 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 causes protein trafficking defect and results in significantly reduced cell surface expression and channel current (PMID: 15051636, 29532034), as well as dominant negative effect on the wild type protein (PMID: 29532034). This variant has been reported in over ten heterozygous and biallelic individuals affected with long QT syndrome (PMID: 10973849, 15051636, 23392653, 25845942, 27041150, 27831900, 28606196, 28438721, 28944242, 29684900; Color data). Biallelic individuals showed severe long QT syndrome without hearing loss (PMID: 23392653, 27041150, 28944242, 29684900). This variant has been shown to cosegregate with long QT phenotype in multiple families (PMID: 15051636, 23392653, 28438721; Color data). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 21, 2024)
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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: SCV001581994.4
First in ClinVar: May 10, 2021 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 179 of the KCNQ1 protein (p.Gly179Ser). … (more)
This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 179 of the KCNQ1 protein (p.Gly179Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with long QT syndrome (LQTS) (PMID: 10973849, 15051636, 23392653, 27041150, 27831900, 28944242). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 53063). 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: 15051636, 29532034). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 01, 2024)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002544486.10
First in ClinVar: Jul 09, 2022 Last updated: Apr 15, 2024 |
Comment:
KCNQ1: PP1:Strong, PM1, PM2, PS4:Moderate, PS3:Supporting
Number of individuals with the variant: 5
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Likely benign
(Jun 01, 2014)
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no assertion criteria provided
Method: research
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Long QT syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190257.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014 |
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Pathogenic
(Apr 01, 2023)
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no assertion criteria provided
Method: clinical testing
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Long QT syndrome 1
Affected status: yes
Allele origin:
germline
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Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
Accession: SCV003927924.1
First in ClinVar: Sep 16, 2023 Last updated: Sep 16, 2023 |
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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: SCV000089213.3
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:10973849;PMID:15051636;PMID:19716085). 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:10973849;PMID:15051636;PMID:19716085). 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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not provided
(-)
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no classification provided
Method: phenotyping only
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Long QT syndrome
Affected status: unknown
Allele origin:
paternal
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GenomeConnect - Brain Gene Registry
Accession: SCV002030753.1
First in ClinVar: Dec 12, 2021 Last updated: Dec 12, 2021 |
Comment:
Variant interpreted as Pathogenic and reported on 07-18-2019 by Lab or GTR ID 26957. Assertions are reported exactly as they appear on the patient provided … (more)
Variant interpreted as Pathogenic and reported on 07-18-2019 by Lab or GTR ID 26957. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR ) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. (less)
Clinical Features:
Overgrowth (present) , Short stature (present) , Abnormality of eye movement (present) , Myopia (present) , Ear malformation (present) , Conductive hearing impairment (present) , … (more)
Overgrowth (present) , Short stature (present) , Abnormality of eye movement (present) , Myopia (present) , Ear malformation (present) , Conductive hearing impairment (present) , Hearing impairment (present) , Abnormality of the nervous system (present) , Cerebral palsy (present) , Cognitive impairment (present) , Abnormality of coordination (present) , EEG abnormality (present) , Hypertonia (present) , Seizure (present) , Anxiety (present) , Short attention span (present) , Abnormality of facial musculature (present) , Abnormal muscle physiology (present) , Abnormal EKG (present) , Feeding difficulties (present) (less)
Indication for testing: Diagnostic
Age: 10-19 years
Sex: female
Method: Sanger Sequencing
Testing laboratory: GeneDx
Date variant was reported to submitter: 2019-07-18
Testing laboratory interpretation: Pathogenic
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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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Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1. | Mura M | Stem cell research | 2018 | PMID: 29684900 |
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations. | Huang H | Science advances | 2018 | PMID: 29532034 |
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance. | Li B | Circulation. Cardiovascular genetics | 2017 | PMID: 29021305 |
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. | Bdier AY | Molecular genetics & genomic medicine | 2017 | PMID: 28944242 |
Prescribing an automated external defibrillator for children at increased risk of sudden arrhythmic death. | McLeod KA | Cardiology in the young | 2017 | PMID: 28606196 |
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity. | Al-Hassnan ZN | Heart rhythm | 2017 | PMID: 28438721 |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. | Natarajan P | Science translational medicine | 2016 | PMID: 27831900 |
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 |
Long QT syndrome with mutations in three genes: A rare case. | Fernandes M | Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology | 2015 | PMID: 25935074 |
Phenotype of Children with QT Prolongation Identified Using an Institution-Wide QT Alert System. | Anderson HN | Pediatric cardiology | 2015 | PMID: 25845942 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. | Giudicessi JR | Circulation. Cardiovascular genetics | 2013 | PMID: 23392653 |
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 |
Compound mutations: a common cause of severe long-QT syndrome. | Westenskow P | Circulation | 2004 | PMID: 15051636 |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. | Splawski I | Circulation | 2000 | PMID: 10973849 |
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Text-mined citations for rs199473394 ...
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.