VCV000008919.27 - ClinVar

NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)

Germline

Classification

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.

(14)

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.

Pathogenic/Likely pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)

Variation ID: 8919 Accession: VCV000008919.27

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 17q24.3 17: 70175691 (GRCh38) [ NCBI UCSC ] 17: 68171832 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	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	Apr 4, 2013	May 7, 2024	Jul 12, 2023

HGVS

Nucleotide	Protein	Molecular consequence
NM_000891.3:c.652C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000882.1:p.Arg218Trp	missense
NC_000017.11:g.70175691C>T
NC_000017.10:g.68171832C>T
NG_008798.1:g.11157C>T
LRG_328:g.11157C>T
LRG_328t1:c.652C>T
	P63252:p.Arg218Trp

... more HGVS ... less HGVS

Protein change

Other names

R218W
p.R218W:CGG>TGG

Canonical SPDI

NC_000017.11:70175690:C:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Decreased function

Global minor allele frequency (GMAF) Help The 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.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA302041 UniProtKB: P63252#VAR_017856 OMIM: 600681.0002 dbSNP: rs104894578 VarSome

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
Gene	OMIM	HI score Help 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.
KCNJ2		-	-	GRCh38 GRCh37	585	609

Conditions - Germline

Condition Help 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.
Andersen Tawil syndrome	Pathogenic/Likely pathogenic (5)	criteria provided, multiple submitters, no conflicts	Oct 5, 2022	RCV000009474.19
not provided	Pathogenic (6)	criteria provided, multiple submitters, no conflicts	May 4, 2023	RCV000170982.25
Congenital long QT syndrome	not provided (1)	no classification provided	-	RCV000058326.11
Andersen Tawil syndrome Short QT syndrome type 3	Pathogenic (1)	criteria provided, single submitter	Jul 12, 2023	RCV000684775.16
Cardiovascular phenotype	Pathogenic (1)	criteria provided, single submitter	Jul 19, 2022	RCV004018605.1

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.
Pathogenic (Jan 18, 2018)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Andersen Tawil syndrome Affected status: yes Allele origin: germline	Laboratory of Medical Genetics, National & Kapodistrian University of Athens Accession: SCV000928340.1 First in ClinVar: Jul 30, 2019 Last updated: Jul 30, 2019	Comment: PM2, PM5, PP2, PP3, PP4, PP5
Pathogenic (May 04, 2023)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000223545.13 First in ClinVar: May 23, 2015 Last updated: Jul 29, 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; Functional studies demonstrate a damaging effect: the variant causes a loss of function and a dominant negative effect on channel function when expressed with the wild-type protein (Plaster et al., 2001; Lange et al. 2003; Caballero et al., 2010); Also known as Kir2.1; This variant is associated with the following publications: (PMID: 12163457, 17568571, 17211524, 23631430, 20647529, 11371347, 25415519, 23867365, 15269659, 17119796, 18554214, 28501311, 12796536, 17221872, 22589293, 29093808, 15852530, 16217063, 17399642, 22581653, 28024840, 31068157, 31567646, 34008892, 35460302, 33057326, 20713726, 12909315) (less)
Pathogenic (Apr 28, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Revvity Omics, Revvity Accession: SCV003820874.2 First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024
Pathogenic (Jul 12, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Short QT syndrome type 3 Andersen Tawil syndrome Explanation for multiple conditions: Uncertain. The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases. Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000285639.10 First in ClinVar: Oct 05, 2015 Last updated: Feb 28, 2024	Publications: PubMed (7) PubMed: 28492532‚ 12909315‚ 17119796‚ 17568571‚ 12796536‚ 17221872‚ 22589293 Comment: ClinVar contains an entry for this variant (Variation ID: 8919). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, … (more) ClinVar contains an entry for this variant (Variation ID: 8919). 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 KCNJ2 protein function. Experimental studies have shown that this missense change affects KCNJ2 function (PMID: 12909315, 17119796, 17568571). For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individual(s) with Andersen-Tawil syndrome (PMID: 12796536, 17119796, 17221872, 22589293). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 218 of the KCNJ2 protein (p.Arg218Trp). (less)
Pathogenic (Jul 19, 2022)	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Cardiovascular phenotype Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV003745282.2 First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024	Publications: PubMed (9) PubMed: 11371347‚ 12796536‚ 12909315‚ 16217063‚ 17119796‚ 17221872‚ 17568571‚ 22589293‚ 25415519 Comment: The c.652C>T (p.R218W) alteration is located in exon 2 (coding exon 1) of the KCNJ2 gene. This alteration results from a C to T substitution … (more) The c.652C>T (p.R218W) alteration is located in exon 2 (coding exon 1) of the KCNJ2 gene. This alteration results from a C to T substitution at nucleotide position 652, causing the arginine (R) at amino acid position 218 to be replaced by a tryptophan (W). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in multiple unrelated patients with Andersen-Tawil syndrome (Plaster, 2001; Donaldson, 2003; Davies, 2005; Tengan, 2006; Haruna, 2007; Kimura, 2012; Lefter, 2014). In addition, an alteration affecting the same amino acid, p.R218Q was reported as disease-causing (Plaster, 2001; Kimura, 2012; Ambry internal data). This amino acid position is highly conserved in available vertebrate species. Experimental studies have shown that this missense change alters KCNJ2 channel assembly and has a dominant negative effect on channel function (Lange, 2003; Decher, 2007). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. (less)
Pathogenic (May 10, 2018)	criteria provided, single submitter (Athena Diagnostics Criteria) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Athena Diagnostics Accession: SCV000842589.1 First in ClinVar: Oct 09, 2016 Last updated: Oct 09, 2016	Publications: PubMed (12) PubMed: 11371347‚ 28024840‚ 28501311‚ 12909315‚ 25415519‚ 23631430‚ 20647529‚ 18554214‚ 17119796‚ 17221872‚ 24211314‚ 26937109
Pathogenic (Oct 23, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided (Autosomal dominant inheritance) Affected status: yes Allele origin: germline	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen Accession: SCV001447312.1 First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020	Clinical Features: Atrial arrhythmia (present) , Gait disturbance (present) , Elevated circulating creatine kinase concentration (present) Sex: male
Pathogenic (Jan 06, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: case-control	Andersen Tawil syndrome (Autosomal dominant inheritance) Affected status: yes Allele origin: inherited	Genetics Laboratory, Department of Biology, Semnan University Accession: SCV002569118.1 First in ClinVar: Sep 10, 2022 Last updated: Sep 10, 2022	Publications: DOI: 10.1038/gim.2015.30 DOI: 10.1038/gim.2015.30 Comment: The identified mutation leads to the substitution of Arginine 218 with Tryptophan (R218W) in the KCNJ2 protein. Hence, this substitution alters the amino acid sequence … (more) The identified mutation leads to the substitution of Arginine 218 with Tryptophan (R218W) in the KCNJ2 protein. Hence, this substitution alters the amino acid sequence and leads to a missense mutation at position 218 with possible increased function in the mutated protein. (less) Clinical Features: Atrial fibrillation (present) Age: 20-29 years Sex: female Ethnicity/Population group: Semnan Geographic origin: Iran Method: Genomic DNA was extracted from blood sample of patient and her affected father and healthy brother using QIAamp DNA Blood Mini Kit (Germany) according to the manufacturer's instructions. To investigate the genetic cause of the abnormal manifestations reported in the affected patient, Whole-exome sequencing (WES) was used to enrich all exons of the protein-coding genes and a few other important genomic regions. The WES was performed for about 100 million reads, using the Illumina Hiseq2000 sequencer platform and Agilent SureSelect Human All Exon V7 kit (Agilent, Santa Clara, USA). Data filtering was first performed based on frequency and then according to intronic, upstream, downstream, 3'-UTR, 5'-UTR, intergenic and other non-coding variants. At final step, synonymous mutations were also filtered. In general, test platform examined more than 95% of the targeted regions with sensitivity of > 99%. The results of WES were analyzed by bioinformatics tools BWA aligner, GATK, and Annovar and public databases ClinVar, gnomAD, Kaviar, and GME. In addition, ACMG (American College of Medical Genetics) guidelines and local population database (BayanGene) with more than 4000 unrelated individuals were utilized. As control, 250 healthy individuals with the same ethnicity as the studied patient were also screened for the mutation found. Online bioinformatics tools MutationTaster, SIFT, Polyphen 2 and CADD_phred software were used to predict the likely pathogenic effects of the mutation. To investigate the effect of identified mutation on the KCNJ2 protein in terms of possible structural and functional changes compared to wild-type protein, SMART tool was used. In order to confirm the new mutation found, PCR and Sanger sequencing was performed. Subsequently, Chromas software was applied to analyze the results of Sanger sequencing.
Likely pathogenic (Oct 05, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	Andersen Tawil syndrome Affected status: yes Allele origin: germline	Center of Excellence for Medical Genomics, Chulalongkorn University Accession: SCV002583253.1 First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022	Publications: PubMed (1) PubMed: 22589293
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Clinical Genetics, Academic Medical Center Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001917732.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021
Pathogenic (May 18, 2001)	no assertion criteria provided Method: literature only	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Affected status: not provided Allele origin: germline	OMIM Accession: SCV000029692.3 First in ClinVar: Apr 04, 2013 Last updated: May 07, 2024	Publications: PubMed (1) PubMed: 11371347 Comment on evidence: In the affected individuals of 4 different pedigrees (K2679, K6515, K2681, and K2401) with Andersen syndrome (170390), Plaster et al. (2001) identified a heterozygous (dominant) … (more) In the affected individuals of 4 different pedigrees (K2679, K6515, K2681, and K2401) with Andersen syndrome (170390), Plaster et al. (2001) identified a heterozygous (dominant) mutation in the KCNJ2 gene. The C-to-T transition at nucleotide 880 resulted in an arg218-to-trp (R218W) substitution within the C-terminal interaction domain of the KCNJ2 protein. The mutation occurred de novo in 3 pedigrees, and it was not found in 100 unaffected and unrelated individuals. Expression of this mutation in Xenopus oocytes revealed loss of function and a dominant-negative effect in KCNJ2 current as assayed by voltage-clamp. (less)
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001951246.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021
not provided (-)	no classification provided Method: literature only	Congenital long QT syndrome Affected status: unknown Allele origin: germline	Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust Accession: SCV000089846.3 First in ClinVar: Oct 22, 2013 Last updated: Oct 09, 2016	Publications: PubMed (12) PubMed: 22581653‚ 11371347‚ 12163457‚ 12796536‚ 15852530‚ 16217063‚ 17074642‚ 17119796‚ 17221872‚ 17399642‚ 18554214‚ 20647529 Comment: This variant has been reported in the following publications (PMID:11371347;PMID:12163457;PMID:12796536;PMID:15852530;PMID:16217063;PMID:17074642;PMID:17119796;PMID:17221872;PMID:17399642;PMID:18554214;PMID:20647529).
not provided (-)	no classification provided Method: literature only	Andersen Tawil syndrome Affected status: unknown Allele origin: germline	GeneReviews Accession: SCV000243876.3 First in ClinVar: Oct 05, 2015 Last updated: Oct 22, 2022	Publications: PubMed (2) PubMed: 17074642‚ 16217063 Bookshelf: NBK1264 Bookshelf: NBK1264
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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; Functional studies demonstrate a damaging effect: the variant causes a loss of function and a dominant negative effect on channel function when expressed with the wild-type protein (Plaster et al., 2001; Lange et al. 2003; Caballero et al., 2010); Also known as Kir2.1; This variant is associated with the following publications: (PMID: 12163457, 17568571, 17211524, 23631430, 20647529, 11371347, 25415519, 23867365, 15269659, 17119796, 18554214, 28501311, 12796536, 17221872, 22589293, 29093808, 15852530, 16217063, 17399642, 22581653, 28024840, 31068157, 31567646, 34008892, 35460302, 33057326, 20713726, 12909315)

Comment:

ClinVar contains an entry for this variant (Variation ID: 8919). 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 KCNJ2 protein function. Experimental studies have shown that this missense change affects KCNJ2 function (PMID: 12909315, 17119796, 17568571). For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individual(s) with Andersen-Tawil syndrome (PMID: 12796536, 17119796, 17221872, 22589293). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 218 of the KCNJ2 protein (p.Arg218Trp).

Comment:

The c.652C>T (p.R218W) alteration is located in exon 2 (coding exon 1) of the KCNJ2 gene. This alteration results from a C to T substitution at nucleotide position 652, causing the arginine (R) at amino acid position 218 to be replaced by a tryptophan (W). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in multiple unrelated patients with Andersen-Tawil syndrome (Plaster, 2001; Donaldson, 2003; Davies, 2005; Tengan, 2006; Haruna, 2007; Kimura, 2012; Lefter, 2014). In addition, an alteration affecting the same amino acid, p.R218Q was reported as disease-causing (Plaster, 2001; Kimura, 2012; Ambry internal data). This amino acid position is highly conserved in available vertebrate species. Experimental studies have shown that this missense change alters KCNJ2 channel assembly and has a dominant negative effect on channel function (Lange, 2003; Decher, 2007). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic.

Comment:

The identified mutation leads to the substitution of Arginine 218 with Tryptophan (R218W) in the KCNJ2 protein. Hence, this substitution alters the amino acid sequence and leads to a missense mutation at position 218 with possible increased function in the mutated protein.

Germline Functional Evidence

Functional Help The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence	Method Help A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter.	Result Help A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Decreased function			Genetics Laboratory, Department of Biology, Semnan University Accession: SCV002569118.1	Publications DOI: 10.1038/gim.2015.30

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Andersen-Tawil Syndrome.	Adam MP	-	2018	PMID: 20301441
The Case \| An unusual case of recurrent hypokalemic periodic paralysis.	Jung JH	Kidney international	2017	PMID: 28501311
Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition.	Ardissone A	Neuromuscular disorders : NMD	2017	PMID: 28024840
Recurrent syncope in the Andersen Tawil syndrome - Cardiac or neurological?	Fryer MD	Indian pacing and electrophysiology journal	2015	PMID: 26937109
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S	Genetics in medicine : official journal of the American College of Medical Genetics	2015	PMID: 25741868
Andersen-Tawil syndrome with early fixed myopathy.	Lefter S	Journal of clinical neuromuscular disease	2014	PMID: 25415519
Combined inhibition of Na⁺ and Ca²⁺ channels: a novel paradigm for the treatment of incessant ventricular arrhythmias in Andersen-Tawil syndrome.	Janson CM	Heart rhythm	2014	PMID: 24211314
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.	Lieve KV	Genetic testing and molecular biomarkers	2013	PMID: 23631430
Phenotype variability in patients carrying KCNJ2 mutations.	Kimura H	Circulation. Cardiovascular genetics	2012	PMID: 22589293
Muscle weakness, palpitations and a small chin: the Andersen-Tawil syndrome.	Rajakulendran S	Practical neurology	2010	PMID: 20647529
Andersen-Tawil syndrome: management challenges during pregnancy, labor, and delivery.	Subbiah RN	Journal of cardiovascular electrophysiology	2008	PMID: 18554214
Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.	Decher N	Cardiovascular research	2007	PMID: 17568571
Flecainide for recurrent malignant ventricular arrhythmias in two siblings with Andersen-Tawil syndrome.	Bökenkamp R	Heart rhythm	2007	PMID: 17399642
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.	Haruna Y	Human mutation	2007	PMID: 17221872
Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities.	Tengan CH	Arquivos de neuro-psiquiatria	2006	PMID: 17119796
Andersen-Tawil syndrome: an ever-expanding phenotype?	Tristani-Firouzi M	Heart rhythm	2006	PMID: 17074643
A family with Andersen-Tawil syndrome and dilated cardiomyopathy.	Schoonderwoerd BA	Heart rhythm	2006	PMID: 17074642
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.	Davies NP	Neurology	2005	PMID: 16217063
KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome.	Takahashi T	Pediatrics international : official journal of the Japan Pediatric Society	2005	PMID: 15852530
Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.	Lange PS	Cardiovascular research	2003	PMID: 12909315
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.	Donaldson MR	Neurology	2003	PMID: 12796536
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).	Tristani-Firouzi M	The Journal of clinical investigation	2002	PMID: 12163457
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.	Plaster NM	Cell	2001	PMID: 11371347
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Text-mined citations for rs104894578 ...

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

Record last updated Nov 10, 2024

ClinVar Genomic variation as it relates to human health

NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs104894578 ...