ClinVar Genomic variation as it relates to human health
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
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
-
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
Variation ID: 48289 Accession: VCV000048289.51
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 3p22.2 3: 38603929 (GRCh38) [ NCBI UCSC ] 3: 38645420 (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 Sep 14, 2015 May 1, 2024 Feb 1, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000335.5:c.1673A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000326.2:p.His558Arg missense NM_001099404.2:c.1673A>G MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001092874.1:p.His558Arg missense NM_001099405.2:c.1673A>G NP_001092875.1:p.His558Arg missense NM_001160160.2:c.1673A>G NP_001153632.1:p.His558Arg missense NM_001160161.2:c.1673A>G NP_001153633.1:p.His558Arg missense NM_001354701.2:c.1673A>G NP_001341630.1:p.His558Arg missense NM_198056.3:c.1673A>G NP_932173.1:p.His558Arg missense NC_000003.12:g.38603929T>C NC_000003.11:g.38645420T>C NG_008934.1:g.50744A>G LRG_289:g.50744A>G LRG_289t1:c.1673A>G LRG_289p1:p.His558Arg LRG_289t3:c.1673A>G LRG_289p3:p.His558Arg Q14524:p.His558Arg - Protein change
- H558R
- Other names
- -
- Canonical SPDI
- NC_000003.12:38603928:T:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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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0.23043 (C)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.22037
Exome Aggregation Consortium (ExAC) 0.22174
1000 Genomes Project 0.23043
1000 Genomes Project 30x 0.23048
The Genome Aggregation Database (gnomAD) 0.24768
Trans-Omics for Precision Medicine (TOPMed) 0.24859
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
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. |
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SCN5A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3742 | 4178 |
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. |
---|---|---|---|---|
Benign (9) |
criteria provided, multiple submitters, no conflicts
|
Mar 5, 2020 | RCV000041604.33 | |
Benign (7) |
criteria provided, multiple submitters, no conflicts
|
Feb 1, 2024 | RCV000058440.28 | |
Benign (1) |
criteria provided, single submitter
|
Mar 16, 2015 | RCV000251327.11 | |
Likely benign (1) |
criteria provided, single submitter
|
Apr 27, 2017 | RCV000304709.13 | |
Likely benign (1) |
criteria provided, single submitter
|
Apr 27, 2017 | RCV000300603.13 | |
Likely benign (1) |
criteria provided, single submitter
|
Apr 27, 2017 | RCV000361696.13 | |
Likely benign (1) |
criteria provided, single submitter
|
Jun 14, 2016 | RCV000339196.13 | |
Likely benign (1) |
criteria provided, single submitter
|
Apr 27, 2017 | RCV000406777.13 | |
Likely benign (1) |
criteria provided, single submitter
|
Apr 27, 2017 | RCV000405409.13 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
May 28, 2019 | RCV000987225.14 | |
Benign (1) |
criteria provided, single submitter
|
Apr 28, 2022 | RCV002496658.8 | |
Benign (1) |
criteria provided, single submitter
|
Mar 15, 2018 | RCV001841593.10 | |
Benign (1) |
criteria provided, single submitter
|
Sep 27, 2022 | RCV003125879.9 | |
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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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---|---|---|---|---|---|
Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000306537.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
|
|
Benign
(Apr 28, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Progressive familial heart block, type 1A
SUDDEN INFANT DEATH SYNDROME Brugada syndrome 1 Dilated cardiomyopathy 1E Ventricular fibrillation, paroxysmal familial, type 1 Long QT syndrome 3 Sick sinus syndrome 1 Atrial fibrillation, familial, 10
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002805784.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
Benign
(Nov 29, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001158905.8
First in ClinVar: Feb 10, 2020 Last updated: Feb 20, 2024 |
|
|
Likely benign
(Jun 14, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Romano-Ward Syndrome
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000444135.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
|
|
Benign
(Apr 20, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Athena Diagnostics
Accession: SCV000843708.1
First in ClinVar: Oct 09, 2016 Last updated: Oct 09, 2016 |
|
|
Benign
(Mar 15, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Arrhythmia
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000910524.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
|
Likely benign
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Dilated cardiomyopathy 1E
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000444138.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
|
Likely benign
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Long QT syndrome 3
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000444134.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
|
Likely benign
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Progressive familial heart block, type 1A
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000444133.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
|
Likely benign
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Sick sinus syndrome 1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000444137.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
|
Likely benign
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Brugada syndrome 1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000444132.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
|
Likely benign
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Ventricular fibrillation, paroxysmal familial, type 1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000444136.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
|
Benign
(Mar 05, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
Accession: SCV001433065.1
First in ClinVar: Sep 27, 2020 Last updated: Sep 27, 2020 |
|
|
Benign
(Jan 01, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Brugada syndrome 1
Affected status: yes
Allele origin:
unknown
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001440390.1
First in ClinVar: Oct 31, 2020 Last updated: Oct 31, 2020 |
|
|
Benign
(Mar 16, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000317411.7
First in ClinVar: Oct 02, 2016 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
|
Benign
(Jun 24, 2013)
|
criteria provided, single submitter
Method: research
|
not specified
Affected status: unknown
Allele origin:
unknown
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
Study: ClinSeq
Accession: SCV000050841.2 First in ClinVar: Jun 04, 2015 Last updated: Sep 14, 2015
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for details. (less)
Medical sequencing
|
Number of individuals with the variant: 181
|
|
Benign
(Nov 22, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000225722.5
First in ClinVar: Jun 28, 2015 Last updated: Oct 02, 2016 |
Number of individuals with the variant: 3
Sex: mixed
|
|
Benign
(Aug 09, 2012)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000065300.6
First in ClinVar: May 03, 2013 Last updated: Oct 02, 2016 |
Comment:
27% (1151/5339) of Afr Amer chrom in ESP
Number of individuals with the variant: 731
|
|
Benign
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Brugada syndrome 1
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001136474.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
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Benign
(Apr 22, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001840837.1
First in ClinVar: Sep 12, 2021 Last updated: Sep 12, 2021 |
Comment:
Observed in 62556/280350 alleles (22.31%), including 7355 homozygous individuals, in large population cohorts, suggesting the variant is benign (Lek et al., 2016); Reported in ClinVar … (more)
Observed in 62556/280350 alleles (22.31%), including 7355 homozygous individuals, in large population cohorts, suggesting the variant is benign (Lek et al., 2016); Reported in ClinVar as likely benign or benign (ClinVar Variant ID# 48289; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 16864729, 26606670, 24332189, 30968627, 26084969, 27554632, 29202755, 27381756, 18368697, 26846766, 27153395, 12569159, 21216356, 21076409, 18803136, 19549036, 20384651, 24388587, 15599693, 22370996, 22064211, 15992732, 21109022, 15851227, 20129283, 25177937, 17185997, 24762593, 14500339, 21840964, 24951663, 21705349, 31043699) (less)
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Benign
(Sep 27, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Dilated Cardiomyopathy
Affected status: yes
Allele origin:
germline
|
Cohesion Phenomics
Accession: SCV003803686.1
First in ClinVar: Feb 18, 2023 Last updated: Feb 18, 2023 |
|
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Benign
(Feb 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001000234.5
First in ClinVar: Dec 17, 2019 Last updated: Feb 14, 2024 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
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: SCV001918416.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
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Benign
(Jul 18, 2011)
|
no assertion criteria provided
Method: provider interpretation
|
not provided
Affected status: unknown
Allele origin:
germline
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000924939.1
First in ClinVar: Jun 29, 2019 Last updated: Jun 29, 2019 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001741215.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930899.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
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: SCV001959661.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: research
|
not provided
Affected status: yes
Allele origin:
germline
|
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital
Accession: SCV003802758.1
First in ClinVar: Feb 18, 2023 Last updated: Feb 18, 2023 |
Comment:
Allele Freq Eas (0.1012); Sift: tolerated (1); PolyPhen: benign (0)
Sex: female
Ethnicity/Population group: Indonesian
Geographic origin: Indonesia;Southeast Asia;Asia
|
|
not provided
(-)
|
no classification provided
Method: literature only
|
not provided
Affected status: unknown
Allele origin:
germline
|
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
Accession: SCV000089960.3
First in ClinVar: Oct 22, 2013 Last updated: Oct 09, 2016 |
Comment:
This variant has been reported in the following publications (PMID:10807545;PMID:11463728;PMID:11997281;PMID:12569159;PMID:12639704;PMID:14760488;PMID:14985827;PMID:15161528;PMID:15599693;PMID:15689442;PMID:16132053;PMID:16155735;PMID:16239976;PMID:16712702;PMID:17161064;PMID:17210839;PMID:17675083;PMID:17993325;PMID:18093912;PMID:18156160;PMID:18362431;PMID:18426444;PMID:19083750;PMID:19841300;PMID:20129283).
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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 |
---|---|---|---|---|
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. | Kapplinger JD | Heart rhythm | 2010 | PMID: 20129283 |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. | Kapa S | Circulation | 2009 | PMID: 19841300 |
Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia. | Zhang Y | Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc | 2008 | PMID: 18426444 |
Association of human SCN5A polymorphisms with idiopathic ventricular arrhythmia in a Chinese Han cohort. | Fang DH | Circulation journal : official journal of the Japanese Circulation Society | 2008 | PMID: 18362431 |
The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases. | Six I | Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology | 2008 | PMID: 18156160 |
Mutations in the SCN5A gene: evidence for a link between long QT syndrome and sudden death? | Kiehne N | Forensic science international. Genetics | 2007 | PMID: 19083750 |
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. | Chen L | Proceedings of the National Academy of Sciences of the United States of America | 2007 | PMID: 18093912 |
Genetic predisposition and cellular basis for ischemia-induced ST-segment changes and arrhythmias. | Hu D | Journal of electrocardiology | 2007 | PMID: 17993325 |
Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction. | Hu D | Heart rhythm | 2007 | PMID: 17675083 |
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. | Arnestad M | Circulation | 2007 | PMID: 17210839 |
Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. | Mank-Seymour AR | American heart journal | 2006 | PMID: 17161064 |
High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia. | Hofman-Bang J | Clinical genetics | 2006 | PMID: 16712702 |
A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state. | Keller DI | The Canadian journal of cardiology | 2005 | PMID: 16239976 |
Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. | Lai LP | Journal of human genetics | 2005 | PMID: 16155735 |
Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. | Gouas L | European journal of human genetics : EJHG | 2005 | PMID: 16132053 |
R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. | Hwang HW | Journal of medical genetics | 2005 | PMID: 15689442 |
Single nucleotide polymorphism map of five long-QT genes. | Aydin A | Journal of molecular medicine (Berlin, Germany) | 2005 | PMID: 15599693 |
Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome. | Chen JZ | Chinese medical journal | 2004 | PMID: 15161528 |
[Single nucleotide polymorphism in SCN5A and the distribution in Chinese Han ethnic group]. | Xie XD | Sheng li xue bao : [Acta physiologica Sinica] | 2004 | PMID: 14985827 |
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 |
Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. | Takahata T | Life sciences | 2003 | PMID: 12639704 |
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. | Viswanathan PC | The Journal of clinical investigation | 2003 | PMID: 12569159 |
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. | Yang P | Circulation | 2002 | PMID: 11997281 |
Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block. | Lupoglazoff JM | Circulation research | 2001 | PMID: 11463728 |
Molecular cloning and expression analysis of the human DA41 gene and its mapping to chromosome 9q21.2-q21.3. | Hanaoka E | Journal of human genetics | 2000 | PMID: 10807547 |
Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. | Iwasa H | Journal of human genetics | 2000 | PMID: 10807545 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SCN5A | - | - | - | - |
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Text-mined citations for rs1805124 ...
HelpRecord last updated Jun 23, 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.