ClinVar Genomic variation as it relates to human health
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
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.
Pathogenic(3); Likely pathogenic(6); Uncertain significance(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
Variation ID: 67939 Accession: VCV000067939.21
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p22.2 3: 38551477 (GRCh38) [ NCBI UCSC ] 3: 38592968 (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 May 1, 2024 Feb 5, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000335.5:c.4892G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000326.2:p.Arg1631His missense NM_001099404.2:c.4895G>A MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001092874.1:p.Arg1632His missense NM_001099405.2:c.4841G>A NP_001092875.1:p.Arg1614His missense NM_001160160.2:c.4796G>A NP_001153632.1:p.Arg1599His missense NM_001160161.2:c.4733G>A NP_001153633.1:p.Arg1578His missense NM_001354701.2:c.4838G>A NP_001341630.1:p.Arg1613His missense NM_198056.3:c.4895G>A NP_932173.1:p.Arg1632His missense NC_000003.12:g.38551477C>T NC_000003.11:g.38592968C>T NG_008934.1:g.103196G>A LRG_289:g.103196G>A LRG_289t1:c.4895G>A LRG_289p1:p.Arg1632His LRG_289t3:c.4895G>A - Protein change
- R1631H, R1632H, R1599H, R1613H, R1614H, R1578H
- Other names
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- Canonical SPDI
- NC_000003.12:38551476:C:T
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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
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
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
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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 |
3739 | 4175 |
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. |
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not provided (1) |
no classification provided
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- | RCV000058723.3 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Oct 18, 2023 | RCV000519341.8 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Aug 22, 2018 | RCV001258072.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Feb 28, 2020 | RCV001530198.1 | |
Uncertain significance (1) |
criteria provided, single submitter
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Oct 1, 2021 | RCV001787861.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jun 8, 2023 | RCV002336214.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 29, 2023 | RCV003450919.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Sep 18, 2023 | RCV003591672.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Feb 5, 2024 | RCV003996546.1 |
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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Likely pathogenic
(Aug 22, 2018)
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criteria provided, single submitter
Method: clinical testing
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Brugada syndrome 1
Long QT syndrome 3
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV001434905.1
First in ClinVar: Oct 03, 2020 Last updated: Oct 03, 2020 |
Comment:
This c.4895G>A (p.Arg1632His) variant in exon 28 of the SCN5A gene results in an amino acid change at residue 1632 of an arginine to a … (more)
This c.4895G>A (p.Arg1632His) variant in exon 28 of the SCN5A gene results in an amino acid change at residue 1632 of an arginine to a histidine. This variant has been observed in patients with sick sinus syndrome and Brugada syndrome (PMID: 14523039, 24948852) and is rarely observed in general population databases. Functional studies have shown a strong effect on cardiac sodium channel kinetics (PMID: 20539757). Therefore, the c.4895G>A (p.Arg1632His) variant in the SCN5A gene is classified as likely pathogenic. (less)
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Likely pathogenic
(Feb 28, 2020)
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criteria provided, single submitter
Method: clinical testing
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Sick sinus syndrome 1
Affected status: yes
Allele origin:
germline
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Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
Accession: SCV001739493.1
First in ClinVar: Jul 07, 2021 Last updated: Jul 07, 2021 |
Number of individuals with the variant: 1
Age: 0-9 years
Sex: male
Ethnicity/Population group: East asia
Geographic origin: China
Testing laboratory: Liwei's Lab
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Uncertain significance
(Oct 01, 2021)
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criteria provided, single submitter
Method: research
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SUDDEN INFANT DEATH SYNDROME
Affected status: yes
Allele origin:
germline
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Robert's Program, Boston Children's Hospital
Accession: SCV002030070.1
First in ClinVar: Dec 12, 2021 Last updated: Dec 12, 2021 |
Comment:
We classify this variant as a variant of uncertain significance using ACMG/AMP criteria. As this variant has functional evidence supporting pathogenicty, we suspect this variant … (more)
We classify this variant as a variant of uncertain significance using ACMG/AMP criteria. As this variant has functional evidence supporting pathogenicty, we suspect this variant is favoring pathogenic. (less)
Clinical Features:
Sudden infant death syndrome (present)
Sex: female
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Pathogenic
(Jun 21, 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: SCV000616867.6
First in ClinVar: Dec 19, 2017 Last updated: Mar 04, 2023 |
Comment:
Observed in the heterozygous state in patients with Brugada syndrome and in the compound heterozygous state with a second SCN5A variant in patients with sick … (more)
Observed in the heterozygous state in patients with Brugada syndrome and in the compound heterozygous state with a second SCN5A variant in patients with sick sinus syndrome, and segregated with SCN5A-related phenotypes in relatives from unrelated families in the published literature (Benson et al., 2003; van Malderen et al., 2017; Robyns et al., 2014; Robyns et al., 2018; Liu et al., 2021); Published functional studies demonstrate a damaging effect on channel kinetics (Benson et al., 2003; Gui et al., 2010); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27381756, 20384651, 25863800, 20539757, 28018021, 17368591, 31521807, 32850980, 31447099, 33131149, 29709101, 29728395, 24948852, 28781330, 26582918, 14523039, 34539730) (less)
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Pathogenic
(Aug 29, 2023)
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criteria provided, single submitter
Method: clinical testing
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Brugada syndrome 1
Affected status: unknown
Allele origin:
germline
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Clinical Genomics Laboratory, Washington University in St. Louis
Accession: SCV004176964.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
Comment:
The SCN5A c.4892G>A (p.Arg1631His) variant, also published as Arg1632His, has been reported in at least four individuals and families affected with sick sinus syndrome or … (more)
The SCN5A c.4892G>A (p.Arg1631His) variant, also published as Arg1632His, has been reported in at least four individuals and families affected with sick sinus syndrome or Brugada syndrome (Benson DW et al., PMID: 14523039; Liu Y et al., PMID: 34539730; Robyns T et al., PMID: 24948852; Van Malderen SCH et al., PMID: 28781330). This variant has been reported in the ClinVar database as a germline pathogenic variant by one submitter, a likely pathogenic variant by five submitters, and a variant of uncertain significance by one submitter. Computational predictors indicate that the variant is damaging, evidence that correlates with impact to SCN5A function. In support of this prediction, functional studies have shown this variant effects cardiac sodium channel kinetics (Glazer AM et al., PMID: 32533946; Gui J et al., PMID: 20384651; Gui J et al., PMID: 20539757). Another variant in the same codon, p.Arg1631Cys, has also been reported in affected individuals (García-Molina E at al., PMID: 27082542; Nakajima T et al., PMID: 26031372). This variant is only observed on 2/251,374 alleles in the general population (gnomAD v.2.1.1), indicating it is not a common variant. Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as pathogenic. (less)
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Likely pathogenic
(Dec 30, 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: SCV003812639.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Oct 18, 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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Invitae
Accession: SCV000637165.7
First in ClinVar: Dec 26, 2017 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1632 of the SCN5A protein (p.Arg1632His). … (more)
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1632 of the SCN5A protein (p.Arg1632His). This variant is present in population databases (rs199473286, gnomAD 0.003%). This missense change has been observed in individuals with Brugada syndrome or sick sinus syndrome (PMID: 14523039, 24948852, 28781330, 34539730, 35027292, 35124229). ClinVar contains an entry for this variant (Variation ID: 67939). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 32533946) indicates that this missense variant is expected to disrupt SCN5A function. Experimental studies have shown that this missense change affects SCN5A function (PMID: 20384651, 20539757, 32533946). This variant disrupts the p.Arg1632 amino acid residue in SCN5A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26031372, 27082542, 31191357). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Jun 08, 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: SCV002634786.3
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.R1632H variant (also known as c.4895G>A), located in coding exon 27 of the SCN5A gene, results from a G to A substitution at nucleotide … (more)
The p.R1632H variant (also known as c.4895G>A), located in coding exon 27 of the SCN5A gene, results from a G to A substitution at nucleotide position 4895. The arginine at codon 1632 is replaced by histidine, an amino acid with highly similar properties, and is located in the DIV-S4 transmembrane region. This alteration has been reported in multiple probands with SCN5A-related arrhythmia including sick sinus syndrome and Brugada syndrome (Benson DW et al. J. Clin. Invest. 2003;112:1019-28; Robyns T et al. Indian Pacing Electrophysiol J. 2014;14:133-49; Van Malderen SCH et al. Circ. J. 2017;82:53-61; Liu Y et al. Front Genet. 2021 Sep;12:677699; Ambry internal data). Functional studies suggest this alteration impairs recovery from inactivation and current density; however, the physiological relevance of these results is unclear (Benson DW et al. J. Clin. Invest. 2003;112:1019-28; Gui J et al. PLoS ONE. 2010;5:e10985; Glazer AM et al. Am. J. Hum. Genet. 2020 Jul;107(1):111-123). In addition, a deep mutational scanning study categorized this alteration as a possible loss of function alteration (Glazer AM et al. Circ Genom Precis Med, 2020 02;13:e002786). Based on internal structural analysis, the arginine impacted by this alteration is part of a highly conserved set of residues that generate a characteristic motif necessary to the function of voltage-sensing channels, and this variant is predicted to disrupt voltage gating activity (Gandhi CS et al. J. Gen. Physiol., 2002 Oct;120:455-63; Starace DM et al. Nature, 2004 Feb;427:548-53; DeCaen PG et al. Proc Natl Acad Sci U S A. 2008 Sep;105(39):15142-7; Ambry internal data). In addition, other variants affecting this codon (p.R1632L, c.4895G>T and p.R1632C, c.4894C>T) have been reported in association with Brugada syndrome (Batchvarov VN et al. J Electrocardiol;44:308; Nakajima T et al. Heart Rhythm. 2015 Nov;12(11):2296-304; Van Malderen SCH et al. Circ. J. 2017;82:53-61). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
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Likely pathogenic
(Sep 18, 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: SCV004361614.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces arginine with histidine at codon 1632 of the SCN5A protein. This variant is also known as p.Arg1631His in the literature based … (more)
This missense variant replaces arginine with histidine at codon 1632 of the SCN5A protein. This variant is also known as p.Arg1631His in the literature based on a different NM_000335 transcript. This variant is found within a highly conserved region (a.a.1530-1771) in the transmembrane domain DIV. Rare non-truncating variants in this region have been shown to be significantly overrepresented in individuals with Brugada syndrome (PMID: 32893267). In vitro functional studies have shown that this variant leads to profound impairment in channel function (PMID: 14523039, 20539757, 32533946). This variant has been reported in at least eight individuals affected with Brugada syndrome from five families (PMID: 24948852, 28781330, 29709101, 32893267, 37061847), in two young individuals affected with sick sinus syndrome, one of which was compound heterozygous for this variant and another pathogenic variant (PMID: 14523039, 34539730), and in two infants affected with sudden unexpected death (PMID: 35027292, Clinvar SCV002030070.1). It has been shown that this variant segregates with SCN5A-related phenotypes in one of the families including four carriers who were affected with Brugada syndrome, sick sinus syndrome, or progressive familial heart block (PMID: 24948852). This variant has been identified in 2/251374 chromosomes in the general population by the Genome Aggregation Database (gnomAD). A different missense variant occurring at the same codon, p.Arg1632Cys, is known to be pathogenic (Clinvar variation ID 242199), indicating that arginine at this position is important for SCN5A protein function. Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
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Likely Pathogenic
(Feb 05, 2024)
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criteria provided, single submitter
Method: clinical testing
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Brugada syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004843393.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 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 arginine with histidine at codon 1632 of the SCN5A protein. This variant is also known as p.Arg1631His in the literature based … (more)
This missense variant replaces arginine with histidine at codon 1632 of the SCN5A protein. This variant is also known as p.Arg1631His in the literature based on a different NM_000335 transcript. This variant is found within a highly conserved region (a.a.1530-1771) in the transmembrane domain DIV. Rare non-truncating variants in this region have been shown to be significantly overrepresented in individuals with Brugada syndrome (PMID: 32893267). In vitro functional studies have shown that this variant leads to profound impairment in channel function (PMID: 14523039, 20539757, 32533946). This variant has been reported in at least eight individuals affected with Brugada syndrome from five families (PMID: 24948852, 28781330, 29709101, 32893267, 37061847), in two young individuals affected with sick sinus syndrome, one of which was compound heterozygous for this variant and another pathogenic variant (PMID: 14523039, 34539730), and in two infants affected with sudden unexpected death (PMID: 35027292, Clinvar SCV002030070.1). It has been shown that this variant segregates with SCN5A-related phenotypes in one of the families including four carriers who were affected with Brugada syndrome, sick sinus syndrome, or progressive familial heart block (PMID: 24948852). This variant has been identified in 2/251374 chromosomes in the general population by the Genome Aggregation Database (gnomAD). A different missense variant occurring at the same codon, p.Arg1632Cys, is known to be pathogenic (Clinvar variation ID 242199), indicating that arginine at this position is important for SCN5A protein function. Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
Number of individuals with the variant: 3
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not provided
(-)
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no classification provided
Method: literature only
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Conduction system disorder
Affected status: unknown
Allele origin:
germline
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Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
Accession: SCV000090243.3
First in ClinVar: Oct 22, 2013 Last updated: Oct 09, 2016 |
Comment:
This variant has been reported in the following publications (PMID:14523039;PMID:20384651;PMID:20539757).
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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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Genetic testing in children with Brugada syndrome: results from a large prospective registry. | Pannone L | 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 | 2023 | PMID: 37061847 |
SCN5A mutation in Brugada syndrome is associated with substrate severity detected by electrocardiographic imaging and high-density electroanatomic mapping. | Pannone L | Heart rhythm | 2022 | PMID: 35124229 |
Genetic Determinants of Sudden Unexpected Death in Pediatrics. | Koh HY | Genetics in medicine : official journal of the American College of Medical Genetics | 2022 | PMID: 35027292 |
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China. | Liu Y | Frontiers in genetics | 2021 | PMID: 34539730 |
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 |
Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report. | Nijak A | Frontiers in cardiovascular medicine | 2020 | PMID: 32850980 |
High-Throughput Reclassification of SCN5A Variants. | Glazer AM | American journal of human genetics | 2020 | PMID: 32533946 |
Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health. | Shaibi GQ | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 32371921 |
Deep Mutational Scan of an SCN5A Voltage Sensor. | Glazer AM | Circulation. Genomic and precision medicine | 2020 | PMID: 31928070 |
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 |
Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene. | Monasky MM | Frontiers in physiology | 2019 | PMID: 31191357 |
SCN5A (Na(V)1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance. | Kroncke BM | Circulation. Genomic and precision medicine | 2018 | PMID: 29728395 |
Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers. | Robyns T | Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc | 2018 | PMID: 29709101 |
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant - Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping. | Van Malderen SCH | Circulation journal : official journal of the Japanese Circulation Society | 2017 | PMID: 28781330 |
An R1632C variant in the SCN5A gene causing Brugada syndrome. | García-Molina E | Molecular medicine reports | 2016 | PMID: 27082542 |
Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature. | Robyns T | Indian pacing and electrophysiology journal | 2014 | PMID: 24948852 |
Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. | Gui J | PloS one | 2010 | PMID: 20539757 |
Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome. | Gui J | Journal of cardiovascular electrophysiology | 2010 | PMID: 20384651 |
Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation. | DeCaen PG | Proceedings of the National Academy of Sciences of the United States of America | 2008 | PMID: 18809926 |
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). | Benson DW | The Journal of clinical investigation | 2003 | PMID: 14523039 |
Advances increase safety of anesthesia. | Scamman F | Iowa medicine : journal of the Iowa Medical Society | 1991 | PMID: 2030070 |
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Text-mined citations for rs199473286 ...
HelpRecord last updated May 01, 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.