ClinVar Genomic variation as it relates to human health
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
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.
Likely pathogenic(5); Uncertain significance(3)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
Variation ID: 67934 Accession: VCV000067934.27
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p22.2 3: 38551495 (GRCh38) [ NCBI UCSC ] 3: 38592986 (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 Sep 16, 2024 Mar 27, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000335.5:c.4874G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000326.2:p.Arg1625His missense NM_001099404.2:c.4877G>A MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001092874.1:p.Arg1626His missense NM_001099405.2:c.4823G>A NP_001092875.1:p.Arg1608His missense NM_001160160.2:c.4778G>A NP_001153632.1:p.Arg1593His missense NM_001160161.2:c.4715G>A NP_001153633.1:p.Arg1572His missense NM_001354701.2:c.4820G>A NP_001341630.1:p.Arg1607His missense NM_198056.3:c.4877G>A NP_932173.1:p.Arg1626His missense NC_000003.12:g.38551495C>T NC_000003.11:g.38592986C>T NG_008934.1:g.103178G>A LRG_289:g.103178G>A LRG_289t1:c.4877G>A LRG_289p1:p.Arg1626His Q14524:p.Arg1626His - Protein change
- R1625H, R1626H, R1607H, R1608H, R1593H, R1572H
- Other names
- p.R1626H:CGC>CAC
- Canonical SPDI
- NC_000003.12:38551494: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
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The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00007
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
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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 |
3779 | 4220 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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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- | RCV000058718.11 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
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Mar 27, 2024 | RCV000183089.20 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Mar 21, 2024 | RCV000252940.12 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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May 1, 2021 | RCV000779405.15 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jan 3, 2023 | RCV001842372.11 |
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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Uncertain significance
(Apr 28, 2017)
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criteria provided, single submitter
Method: clinical testing
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Long QT syndrome 3
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000916017.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The SCN5A c.4877G>A (p.Arg1626His) missense variant has been reported in two individuals with long QT syndrome (Berge et al. 2008; Kapplinger et al. 2009). The … (more)
The SCN5A c.4877G>A (p.Arg1626His) missense variant has been reported in two individuals with long QT syndrome (Berge et al. 2008; Kapplinger et al. 2009). The p.Arg1626His variant has also been found in one individual with lone atrial fibrillation (Olesen et al. 2012). The p.Arg1626His variant was absent from 94 healthy controls and is reported at a frequency of 0.00011 in the European (non-Finnish) population of the Exome Aggregation Consortium. Functional studies using expression of p.Arg1626His protein in mammalian HEK293 cells, followed by whole cell patch-clamp analysis revealed a two- to three-fold increased sustained sodium current, consistent with a gain-of-function effect (Olesen et al. 2012). Based on the evidence, the p.Arg1626His variant is classified as a variant of unknown significance but suspicious for pathogenicity for long QT syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Likely pathogenic
(Jan 04, 2019)
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criteria provided, single submitter
Method: research
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Long QT syndrome 3
Affected status: unknown
Allele origin:
unknown
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HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: AGHI_GT
Accession: SCV000993582.1 First in ClinVar: Sep 25, 2019 Last updated: Sep 25, 2019 |
Number of individuals with the variant: 1
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Uncertain significance
(Sep 03, 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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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001199790.3
First in ClinVar: Apr 15, 2020 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1626 of the SCN5A protein (p.Arg1626His). … (more)
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1626 of the SCN5A protein (p.Arg1626His). This variant is present in population databases (rs199473283, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of SCN5A-related conditions (PMID: 18752142, 19716085, 22685113, 25904541, 26159999, 31983221). ClinVar contains an entry for this variant (Variation ID: 67934). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects SCN5A function (PMID: 22685113). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Likely pathogenic
(Mar 21, 2024)
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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: SCV000320666.7
First in ClinVar: Oct 02, 2016 Last updated: Aug 11, 2024 |
Comment:
The p.R1626H variant (also known as c.4877G>A), located in coding exon 27 of the SCN5A gene, results from a G to A substitution at nucleotide … (more)
The p.R1626H variant (also known as c.4877G>A), located in coding exon 27 of the SCN5A gene, results from a G to A substitution at nucleotide position 4877. The arginine at codon 1626 is replaced by histidine, an amino acid with highly similar properties, and is located in the transmembrane DIV-S4 region. This variant has been reported in an individual with early onset lone atrial fibrillation and has been detected in a dilated cardiomyopathy cohort (Olesen MS, Circ Cardiovasc Genet 2012 Aug; 5(4):450-9; Mazzarotto F et al. Circulation. 2020 02;141(5):387-398). In studies of long QT syndrome clinical genetic testing, this alteration was reported in two patients; however, clinical details were limited (Berge KE et al. Scand. J. Clin. Lab. Invest. 2008; 68(5):362-8; Kapplinger JD et al. Heart Rhythm. 2009;6(9):1297-303). In vitro studies suggest this variant alters SCN5A channel function (Olesen MS, Circ Cardiovasc Genet 2012 Aug; 5(4):450-9), and internal structural analysis indicates that this variant disrupts a well known arginine characteristic of the voltage sensing region of voltage-gated ion channels. 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
(May 01, 2021)
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criteria provided, single submitter
Method: research
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Long QT syndrome 3
Affected status: unknown
Allele origin:
unknown
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Laan Lab, Human Genetics Research Group, University of Tartu
Accession: SCV002538620.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
Number of individuals with the variant: 1
Clinical Features:
Non-obstructive azoospermia (present)
Secondary finding: yes
Method: exome sequencing
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Uncertain significance
(Jan 03, 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: SCV001350149.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces arginine with histidine at codon 1626 of the SCN5A protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
This missense variant replaces arginine with histidine at codon 1626 of the SCN5A protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). A functional study has shown that this variant causes defects in channel function including positive voltage shift of steady-state activation, a negative voltage shift of steady-state inactivation, a decreased onset of fast inactivation, and moderately increased sustained current (PMID: 22685113), while another study has shown that this variant has no impact on channel function (PMID: 31928070). This variant has been reported in two individuals referred for long QT syndrome genetic testing (PMID: 18752142, 19716085) and in an individual affected with early-onset lone atrial fibrillation and flecainide-induced prolonged QT interval (PMID: 22685113, 24144883). This variant has also been reported in an individual with normal QTc interval from a population-based cohort of participants undergoing whole exome sequencing (PMID: 26159999). This variant has been identified in 12/282564 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
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Likely pathogenic
(Sep 12, 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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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV004563324.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
The SCN5A c.4877G>A; p.Arg1626His variant is reported in individuals with Romano Ward syndrome, Brugada syndrome, dilated cardiomyopathy, or early-onset lone atrial fibrillation (Berge 2008, eMERGE … (more)
The SCN5A c.4877G>A; p.Arg1626His variant is reported in individuals with Romano Ward syndrome, Brugada syndrome, dilated cardiomyopathy, or early-onset lone atrial fibrillation (Berge 2008, eMERGE Consortium 2019, Mazzarotto 2020, Olesen 2012). It is also reported by multiple laboratories in the ClinVar database (Variation ID: 67934)and is found in the general population with an overall allele frequency of 0.004% (12/282,654 alleles) in the Genome Aggregation Database (v2.1.1). This variant was reported in one individual with a corrected QT interval not significantly different than individuals without this variant (Ghouse 2015). However, functional analyses of the variant protein show this variant shifts the steady-state activation and inactivation of the SCN5A protein channel, consistent with a gain of function (Olesen 2012). Other variants at this codon (Arg1626Cys, Arg1626Pro) have also been reported in individuals affected with cardiac disease (Banderali 2010, Baruteau 2018, Priori 2000, Ruan 2007). Based on available information, the p.Arg1626His variant is considered to be likely pathogenic. References: Banderali U et al. Impaired stretch modulation in potentially lethal cardiac sodium channel mutants. Channels (Austin). 2010 Jan-Feb;4(1):12-21. Baruteau AE et al. SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups. Eur Heart J. 2018 Aug 14;39(31):2879-2887. Berge KE et al. Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008;68(5):362-8. eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. Am J Hum Genet. 2019 Sep 5;105(3):588-605. Ghouse J et al. Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 Oct 1;36(37):2523-9. Mazzarotto F et al. Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy. Circulation. 2020 Feb 4;141(5):387-398. Olesen MS et al. High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet. 2012 Aug 1;5(4):450-9. Priori SG et al. The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation. 2000 Aug 29;102(9):945-7. Ruan Y et al. Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients. Circulation. 2007 Sep 4;116(10):1137-44. (less)
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Likely pathogenic
(Mar 27, 2024)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000235499.13
First in ClinVar: Jul 05, 2015 Last updated: Sep 16, 2024 |
Comment:
Identified in a patient with DCM in published literature (PMID: 31983221); Published functional studies demonstrate a gain-of-function effect as the R1626H variant channel causes a … (more)
Identified in a patient with DCM in published literature (PMID: 31983221); Published functional studies demonstrate a gain-of-function effect as the R1626H variant channel causes a positive voltage shift in steady-state activation, a negative voltage shift in steady state inactivation, decreased fast inactivation, and a two- to three-fold increased sustained sodium current, compared to wild-type channel (PMID: 22685113); This variant is associated with the following publications: (PMID: 22581653, 19716085, 22685113, 24144883, 30609406, 37652022, 35535697, 18752142, 31447099, 33087929, 31357904, 36013246, 26159999, 31983221) (less)
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Uncertain significance
(Aug 22, 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: SCV000924942.1
First in ClinVar: Jun 29, 2019 Last updated: Jun 29, 2019 |
Comment:
p.Arg1626His (c.4877G>A) in SCN5A (NM_198056) Seen in a patient in our center with no signs of long QT or Brugada. Variant was identified on secondary … (more)
p.Arg1626His (c.4877G>A) in SCN5A (NM_198056) Seen in a patient in our center with no signs of long QT or Brugada. Variant was identified on secondary search when patient had clinical exome sequencing for a neurological indication. Given the weak case data and the allele frequency in ExAC we consider this variant a variant of uncertain significance and we do not feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). I discussed the variant with our clinical genome service as well as another clinical lab we often use for cardiac genetic testing and both agreed it is a variant of uncertain significance nothing the allele frequency in ExAC is too high. The variant has been seen in more than two individuals sent to a clinical laboratory for long QT genetic testing (with no phenotypic data available) and an individual with early-onset atrial fibrillation and a normal QTc that lengthened with Flecainide provocation. It has been seen in multiple individuals in the general population; ECG on one of those individuals showed a normal QT interval. There is no segregation data available. Berge et al (2008) observed the variant in 1 of 169 individuals referred for autosomal dominant long QT syndrome genetic testing. They do not report ancestry, however the cases were seen as part of regular clinical care at a laboratory in Norway. The variant was reported in 1 individuals in the Familion compendium, which includes 2500 patients referred for clinical long QT genetic testing (Kapplinger et al 2009). Ancestry was not reported. Those cases likely overlap with the data in Kapa et al (2009), Giudicessi et al (2012) and Kapplinger et al (2015) since these are all from Ackerman's group and use data from his cohort and from the Familion cohort. Of note in considering the cases reported by Kapplinger et al (2009) is the lack of phenotypic data on this cohort, the low yield of 36% (vs. 70% in cohorts with firm diagnoses of long QT), and the lack of clarity regarding which variants were seen with another variant (9% of the cohort had multiple variants). Olesen et al (2012) observed the variant in 1 of 192 people with lone early-onset atrial fibrillation (onset 16 to 39yo). Ancestry was "Danish/white". The patient had a normal QTc of 443 ms, however, on Flecainide testing the QTc lengthened to 495 ms. The same group then looked for variants published in association with long QT syndrome in a Danish population sample (Ghouse et al 2015). They observed this variant in 1 of 869 individuals and that individual had a normal QTc. GeneDx notes that they have observed the variant in multiple people tested in their laboratory but they do not provide phenotypic details. Per the lab report, in silico analysis with PolyPhen-2 and SIFT predicts the variant to be probably damaging. The arginine at codon 1626 is conserved across species and paralogues. Per ClinVar and cardiodb.org, other variants have been reported in association with disease at this codon (Arg1626Pro) and nearby codons (Arg1623Gln, Arg1623Leu, Arg1629Gln, Arg1629Gl). p.Arg162Pro is not present in Exac. The only ClinVar entry is from Royal Brompton, as pathogenic. Priori's group observed it in 1/430 individuals with long QT syndrome (Napolitano et al 2005; presumably same case as Priori et al 2000 and Ruan et al 2007) Per paralogue annotation by cardiodb.org, variants at the corresponding codon in several genes have been reported in association with disease (SCN1A, SCN4A, CACNA1S, CACNA1A, SCN2A). The variant occurs in the last (most C terminal) transmembrane domain. When comparing variants in cases to controls, Ackerman's group assessed that variants in the transmembrane domains have an 88% likelihood of being in seen in a case, not a control (Kapa et al 2009). Olesen et al (2012) studied the variant in vitro and reported a gain of function effect with positive voltage shift in steady-state activation, negative voltage shift in steady-state inactivation, decreased fast inactivation, 2-3 fold increased sustained sodium current. The variant was reported online in 8 of 60631 individuals 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 Aug 15, 2016). Specifically, the variant was observed in 7 of 33350 non-Finnish Europeans (allele frequency 0.01%) and 1 of 3307 Finish Europeans (allele frequency 0.015%). The phenotype of those individuals is not publicly available. The dataset is comprised of multiple cohorts, some of which were recruited from the general population, others were enriched for common cardiovascular disease. (less)
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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: SCV000090238.3
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:18752142;PMID:19716085;PMID:22685113). 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:18752142;PMID:19716085;PMID:22685113). 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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Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management. | Kasak L | Human reproduction (Oxford, England) | 2022 | PMID: 35535697 |
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy. | Mazzarotto F | Circulation | 2020 | PMID: 31983221 |
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 |
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. | Whiffin N | American journal of human genetics | 2019 | PMID: 30609406 |
Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. | Ghouse J | European heart journal | 2015 | PMID: 26159999 |
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel. | Kapplinger JD | Circulation. Cardiovascular genetics | 2015 | PMID: 25904541 |
Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. | Olesen MS | Heart rhythm | 2014 | PMID: 24144883 |
High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. | Olesen MS | Circulation. Cardiovascular genetics | 2012 | PMID: 22685113 |
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 |
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. | Berge KE | Scandinavian journal of clinical and laboratory investigation | 2008 | PMID: 18752142 |
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Text-mined citations for rs199473283 ...
HelpRecord last updated Oct 13, 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.