ClinVar Genomic variation as it relates to human health
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)
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.944A>G (p.Tyr315Cys)
Variation ID: 53140 Accession: VCV000053140.48
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p15.5 11: 2583457 (GRCh38) [ NCBI UCSC ] 11: 2604687 (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 Oct 9, 2016 Dec 22, 2024 Jul 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000218.3:c.944A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000209.2:p.Tyr315Cys missense NM_001406836.1:c.944A>G NP_001393765.1:p.Tyr315Cys missense NM_001406837.1:c.674A>G NP_001393766.1:p.Tyr225Cys missense NM_001406838.1:c.500A>G NP_001393767.1:p.Tyr167Cys missense NM_181798.2:c.563A>G NP_861463.1:p.Tyr188Cys missense NR_040711.2:n.837A>G NC_000011.10:g.2583457A>G NC_000011.9:g.2604687A>G NG_008935.1:g.143467A>G LRG_287:g.143467A>G LRG_287t1:c.944A>G LRG_287p1:p.Tyr315Cys LRG_287t2:c.563A>G LRG_287p2:p.Tyr188Cys P51787:p.Tyr315Cys - Protein change
- Y315C, Y188C, Y167C, Y225C
- Other names
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p.Y315C:TAT>TGT
- Canonical SPDI
- NC_000011.10:2583456:A:G
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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.
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Trans-Omics for Precision Medicine (TOPMed) 0.00000
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
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
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
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 |
1762 | 2744 |
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
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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not provided (1) |
no classification provided
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- | RCV000057816.11 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Oct 5, 2023 | RCV000182138.33 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 1, 2023 | RCV000619103.13 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jul 31, 2024 | RCV000678812.15 | |
Likely pathogenic (2) |
criteria provided, single submitter
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Nov 3, 2017 | RCV000709732.10 |
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
(May 11, 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: SCV000234441.15
First in ClinVar: Jul 05, 2015 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate a damaging effect as this variant results in reduced potassium channel current in vitro (Bianchi et al., 2000); Not observed at … (more)
Published functional studies demonstrate a damaging effect as this variant results in reduced potassium channel current in vitro (Bianchi et al., 2000); 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; This variant is associated with the following publications: (PMID: 15466642, 24269949, 19490272, 14678125, 9693036, 9927399, 17470695, 15840476, 19261104, 23575362, 23130128, 12877697, 12702160, 24606995, 18774102, 23098067, 19716085, 24217263, 28749187, 27920829, 28438721, 10868744, 14760488, 20541041, 10220144, 31447099, 34135346, 11087258) (less)
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Pathogenic
(Oct 29, 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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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001588720.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 315 of the KCNQ1 protein … (more)
This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 315 of the KCNQ1 protein (p.Tyr315Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with long QT syndrome (PMID: 9693036, 12702160, 18774102, 21451124, 24217263, 24606995). ClinVar contains an entry for this variant (Variation ID: 53140). 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: 11087258, 21451124). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Feb 01, 2023)
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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: SCV000737748.6
First in ClinVar: Apr 14, 2018 Last updated: May 01, 2024 |
Comment:
The p.Y315C pathogenic mutation (also known as c.944A>G), located in coding exon 7 of the KCNQ1 gene, results from an A to G substitution at … (more)
The p.Y315C pathogenic mutation (also known as c.944A>G), located in coding exon 7 of the KCNQ1 gene, results from an A to G substitution at nucleotide position 944. The tyrosine at codon 315 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration impacts the highly conserved ion selectivity filter (TIGYGD) located between transmembrane helices S5 and S6. This alteration has been detected in multiple unrelated individuals reported to have confirmed or suspected long QT syndrome, with variable expressivity in some cases (LQTS) (Splawski I et al. Genomics. 1998;51(1):86-97; Chen S et al. Clin Genet. 2003;63(4):273-82; Moss AJ et al. Circulation. 2007; Kapplinger JD et al. Heart Rhythm. 2009;6(9):1297-303; 115(19):2481-9; Itoh H et al. Heart Rhythm. 2010;7(10):1411-8; Bartos DC et al. Heart Rhythm. 2014;11(3):459-68). One study reported this alteration to result in a dominant negative effect on wild-type IKs current when expressed with wild-type channel in vitro (Bianchi L et al. Am J Physiol Heart Circ Physiol. 2000;279(6):H3003-11). Internal structural analysis indicates that this variant disrupts the ion channel pore and is expected to eliminate the K+ selectivity of the K+ channel (Tao X et al. Science. 2009;326(5960):1668-74; Whorton MR and MacKinnon R. Cell. 2011;147(1):199-208; Ambry internal data). In addition, another alteration affecting this codon (p.Y315S, c.944A>C) has also been reported in association with LQTS (Jongbloed RJ et al. Hum Mutat. 1999;13(4):301-10). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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)
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Pathogenic
(Oct 05, 2023)
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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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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV005413963.1
First in ClinVar: Nov 24, 2024 Last updated: Nov 24, 2024 |
Comment:
PP3, PM1, PM2, PS3, PS4
Number of individuals with the variant: 1
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Pathogenic
(May 01, 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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002544488.17
First in ClinVar: Jul 09, 2022 Last updated: Dec 22, 2024 |
Comment:
KCNQ1: PM1, PM2, PM5, PS4:Moderate, PP3, PS3:Supporting
Number of individuals with the variant: 1
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Likely pathogenic
(Nov 03, 2017)
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criteria provided, single submitter
Method: clinical testing
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Long QT syndrome 1
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000839970.1
First in ClinVar: Oct 14, 2018 Last updated: Oct 14, 2018 |
Comment:
The c.944A>G (p.Tyr315Cys) variant in the KCNQ1 gene has been observed in multiple individuals with long QT syndrome (PMID: 9693036, 10868744, 12702160, 15840476, 14760488, 15466642). … (more)
The c.944A>G (p.Tyr315Cys) variant in the KCNQ1 gene has been observed in multiple individuals with long QT syndrome (PMID: 9693036, 10868744, 12702160, 15840476, 14760488, 15466642). In addition, experimental studies have shown that this missense change leads to altered KCNQ1 protein function (PMID: 11087258). The c.944A>G (p.Tyr315Cys) variant in the KCNQ1 gene is classified as likely pathogenic. (less)
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Likely Pathogenic
(Jul 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Long QT syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV005426322.1
First in ClinVar: Dec 14, 2024 Last updated: Dec 14, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces tyrosine with cysteine at codon 315 of the KCNQ1 protein. This variant is found within the highly conserved pore-forming domain (a.a. … (more)
This missense variant replaces tyrosine with cysteine at codon 315 of the KCNQ1 protein. This variant is found within the highly conserved pore-forming domain (a.a. 300-320). Rare non-truncating variants in this region have been shown to be significantly overrepresented in individuals with long QT syndrome (PMID: 32893267). Functional studies have shown that the mutant protein exhibits a dominant negative effect when it forms a complex with a wild type protein, resulting in a dysfunctional potassium channel (PMID: 11087258, 21451124). This variant has been reported in over 15 unrelated individuals affected with long QT syndrome (PMID: 28438721, 32893267, 36102233). Additionally, this variant has been reported to be associated with a prolonged QTc interval and with having a diagnosis of long QT syndrome (OR 228.9; 95% CI = 58.24-899.6) in the Icelandic population (PMID: 37449562, ClinVar SCV004022220.1). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Different missense variants occurring at the same codon, p.Tyr315Ser and p.Tyr315His, are known to cause disease (Clinvar variation ID: 53139, 449302), indicating that tyrosine at this position is important for the protein function. Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
Number of individuals with the variant: 1
Zygosity: Single Heterozygote
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Likely pathogenic
(Jan 18, 2017)
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no assertion criteria provided
Method: clinical testing
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Long QT syndrome
Affected status: yes
Allele origin:
germline
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Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
Accession: SCV000804998.1
First in ClinVar: Sep 14, 2018 Last updated: Sep 14, 2018 |
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Pathogenic
(Mar 02, 2016)
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no assertion criteria provided
Method: provider interpretation
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not provided
Affected status: unknown
Allele origin:
germline
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Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280167.2
First in ClinVar: May 29, 2016 Last updated: Nov 08, 2018 |
Comment:
p.Tyr315Cys (c.944A>G, p.Y315C) in the KCNQ1 gene The variant was re-reviewed March 2nd, 2016. There was both new case data and new allele frequency data, … (more)
p.Tyr315Cys (c.944A>G, p.Y315C) in the KCNQ1 gene The variant was re-reviewed March 2nd, 2016. There was both new case data and new allele frequency data, both of which further support pathogenicity and shift our classification from likely pathogenic to pathogenic. The variant has been seen in at least 13 unrelated cases of long QT syndrome (not including this patient). We seen this variant in one other family with long QT in our center. Splawski et al (1998) reported this variant in a patient with long QT syndrome, presumably from their American cohort (ancestry not noted). Priori et al (1999) reported the variant in a patient from their Italian cohort with long QT syndrome. Chen et al (2003) observed the variant in two siblings with long QT syndrome (cohort studied at Cleveland clinic, recruited from clinics in North America, South America, Europe; ancestry not provided). Choi et al (2004) reported the variant in an "LQT1 index case" (no other phenotypic data provided) who had a cousin with exertional syncope and a near-drowning event (cohort studied in Dr. Ackerman's lab at Mayo; ancestry not provided). This case likely overlaps with Nemec et al (2003) and Tester et al (2005), also from Dr. Ackerman's group. The variant was observed in 4 patients included in the Familion compendium publication with no phenotype or ancestry data (Kapplinger et al 2009). This publication reports on variants observed in patients referred for long QT syndrome genetic testing using the Familion test at PGxHealth (now Transgenomics). Napolitano et al (2000) reported the variant in a woman with QT-prolongation and arrest in the setting of a QT-prolonging medication (cisapride) (ancestry not noted but patient likely from Italy). Patients with this variant are included in two papers on genotype-phenotype correlations (Zareba et al 2003, Moss et al 2007). The subjects were drawn from the various long QT registries and many of the authors overlap with the other publications reviewed here, so at least some of the cases are likely redundant with those summarized above. Stattin et al (2012) studied 200 unrelated index cases of LQTS referred for care in Sweden between 3/2006 and 10/2009. KCNQ1, KCNH2, KCNE1, KCNE2, and SCN5A were analyzed. The variant of interest was found in a single proband; no segregation data is reported. Hedley et al (2013) studied 44 South African congenital LQTS patients, screening them for variants in the coding regions of KCNQ1, KCNH2, KCNE1, KCNE2, and SCN5A. The variant of interest was found in one patient (no segregation data reported). Christiansen et al (2014) assessed 70 unrelated Danish LQTS probands by variant screening of KCNQ1, KCNH2, KCNE1, KCNE2, and SCN5A. The variant of interest was found in a single proband; no segregation data is reported. In silico analysis with PolyPhen-2 predicts the variant to be probably damaging. Grantham score is 5.29. The tyrosine at codon 315 is completely conserved across species, as are neighboring amino acids. Other variants have been reported in association with disease at this codon (p.Tyr315Ser, p.Tyr315Phe) and nearby codons (p.Ile313Met, p.Gly314Asp, p.Gly314Ala, p.Gly314Ser, p.Gly314Cys, p.Gly314Arg, p.Gly314Val, p.GLy316Glu, p.GLy316Arg). Functional studies have shown a decrease in potassium current (Bianchi et al 2000). The variant is in the pore region of the channel. Variants in this region are much more likely to be pathogenic than benign. There is also some evidence that they confer a higher risk of events (Moss et al 2007), though other studies have not found such a difference (Zareba et al 2003). Barsheshet et al (2012) found that carriers of missense variants in the cytoplasmic loops had the highest risk of events as well as the greatest response to beta-blockade. The patient's variant is not in the cytoplasmic loop. Moss et al (2007) reported a higher risk with dominant negative variants and classify this variant as dominant negative. In total the variant has not been seen in ~65,000 published controls and individuals from publicly available population datasets. The variant was not observed in the following laboratory and published control samples: Splawski et al (1998) did not observe the variant in 200 controls (ancestry not reported), Kapplinger et al (2009) did not observe the variant in 1300 control individuals of varying ancestries. The variant is not listed in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of 3/1/16). However, another variation at codon 315 is listed (p.Tyr315Tyr; 11:2604688T/C), having been observed in 1 (east Asian) out of 121060 total alleles. (less)
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Likely pathogenic
(Jul 21, 2023)
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no assertion criteria provided
Method: research
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Long QT syndrome 1
Affected status: yes
Allele origin:
germline
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deCODE genetics, Amgen
Accession: SCV004022220.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
Comment:
The variant NM_000218.3:c.944A>G (chr11:2583457) in KCNQ1 was detected in 17 heterozygotes out of 58K WGS Icelanders (MAF= 0,015%). Following imputation in a set of 166K … (more)
The variant NM_000218.3:c.944A>G (chr11:2583457) in KCNQ1 was detected in 17 heterozygotes out of 58K WGS Icelanders (MAF= 0,015%). Following imputation in a set of 166K Icelanders (48 imputed heterozygotes) we observed an association with an elongation of the qt interval on ECG using measurements from 80068 individuals (Effect (SD)= 2.21, P= 5.38e-26) and heart failure using 20765 cases and 367806 controls (OR= 3.17, P= 1.31e-02). This variant has been reported in ClinVar previously as pathogenic/likely pathogenic. Based on ACMG criteria (PS4, PM1, PP3, PP5) this variant classifies as likely pathogenic. (less)
Number of individuals with the variant: 48
Ethnicity/Population group: Icelandic
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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: SCV000089336.3
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:9693036;PMID:10868744;PMID:12702160;PMID:12877697;PMID:14678125;PMID:14760488;PMID:15466642;PMID:15840476;PMID:19716085;PMID:9927399;PMID:17470695). 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:9693036;PMID:10868744;PMID:12702160;PMID:12877697;PMID:14678125;PMID:14760488;PMID:15466642;PMID:15840476;PMID:19716085;PMID:9927399;PMID:17470695). 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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Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland. | Sveinbjornsson G | Journal of the American Heart Association | 2023 | PMID: 37449562 |
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome. | Yee LA | Journal of the American Heart Association | 2022 | PMID: 36102233 |
Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region. | Schwartz PJ | European heart journal | 2021 | PMID: 34505893 |
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent. | Lacaze P | NPJ genomic medicine | 2021 | PMID: 34135346 |
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. | Walsh R | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 | PMID: 32893267 |
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. | eMERGE Consortium. Electronic address: agibbs@bcm.edu | American journal of human genetics | 2019 | PMID: 31447099 |
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity. | Al-Hassnan ZN | Heart rhythm | 2017 | PMID: 28438721 |
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study. | Burns C | Journal of arrhythmia | 2016 | PMID: 27920829 |
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. | Christiansen M | BMC medical genetics | 2014 | PMID: 24606995 |
A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation. | Bartos DC | Heart rhythm | 2014 | PMID: 24269949 |
Long QT syndrome in South Africa: the results of comprehensive genetic screening. | Hedley PL | Cardiovascular journal of Africa | 2013 | PMID: 24217263 |
Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients. | Jons C | Science translational medicine | 2011 | PMID: 21451124 |
Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. | Itoh H | Heart rhythm | 2010 | PMID: 20541041 |
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 and electrophysiological features of Japanese pediatric long QT syndrome patients with KCNQ1 mutations. | Yasuda K | Pediatrics international : official journal of the Japan Pediatric Society | 2008 | PMID: 19261104 |
Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. | Eddy CA | Heart rhythm | 2008 | PMID: 18774102 |
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 |
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. | Choi G | Circulation | 2004 | PMID: 15466642 |
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. | Paulussen AD | Journal of molecular medicine (Berlin, Germany) | 2004 | PMID: 14760488 |
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. | Zareba W | Journal of cardiovascular electrophysiology | 2003 | PMID: 14678125 |
Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. | Nemec J | Pacing and clinical electrophysiology : PACE | 2003 | PMID: 12877697 |
KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death. | Chen S | Clinical genetics | 2003 | PMID: 12702160 |
Mechanisms of I(Ks) suppression in LQT1 mutants. | Bianchi L | American journal of physiology. Heart and circulatory physiology | 2000 | PMID: 11087258 |
Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias. | Napolitano C | Journal of cardiovascular electrophysiology | 2000 | PMID: 10868744 |
Low penetrance in the long-QT syndrome: clinical impact. | Priori SG | Circulation | 1999 | PMID: 9927399 |
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. | Splawski I | Genomics | 1998 | PMID: 9693036 |
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Text-mined citations for rs74462309 ...
HelpRecord last updated Jan 13, 2025
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.