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NM_000335.5(SCN5A):c.2533del (p.Val845fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 25, 2021)
Last evaluated:
Dec 31, 2020
Accession:
VCV000201559.8
Variation ID:
201559
Description:
1bp deletion
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NM_000335.5(SCN5A):c.2533del (p.Val845fs)

Allele ID
196944
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 38585945 (GRCh38) GRCh38 UCSC
3: 38627436 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000335.4:c.2533delG
LRG_289:g.68728del
NM_198056.2:c.2533delG
... more HGVS
Protein change
V845fs
Other names
-
Canonical SPDI
NC_000003.12:38585944:CC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA016249
dbSNP: rs794728912
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Jan 7, 2019 RCV000614105.4
Likely pathogenic 1 criteria provided, single submitter Dec 31, 2020 RCV000183153.4
Pathogenic 1 criteria provided, single submitter Mar 23, 2017 RCV000621392.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN5A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2370 2625

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 07, 2019)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome
Allele origin: germline
Invitae
Accession: SCV000760219.3
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Val845Cysfs*2) in the SCN5A gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Dec 12, 2017)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000731766.2
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The p.Val845fs variant in SCN5A has been reported in 1 individual with suspected Brugada syndrome (Kapplinger 2010) and has also been reported by other clinical … (more)
Pathogenic
(Mar 23, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000738104.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The c.2533delG pathogenic mutation, located in coding exon 15 of the SCN5A gene, results from a deletion of one nucleotide at nucleotide position 2533, causing … (more)
Likely pathogenic
(Dec 31, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000235569.10
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Reported in a patient referred for Brugada syndrome genetic testing (Kapplinger et al., 2010); Reported in ClinVar (ClinVar Variant ID# 201559; Landrum et al., 2016); … (more)
Pathogenic
(Apr 29, 2015)
no assertion criteria provided
Method: clinical testing
Brugada syndrome
(Autosomal dominant inheritance)
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000914210.1
Submitted: (May 21, 2019)
Evidence details

Functional evidence

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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 this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
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

Text-mined citations for rs794728912...

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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 27, 2021