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NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5
First in ClinVar:
Oct 31, 2013
Most recent Submission:
May 16, 2022
Last evaluated:
Sep 2, 2021
Accession:
VCV000068571.8
Variation ID:
68571
Description:
single nucleotide variant
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NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)

Allele ID
79463
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 165991927 (GRCh38) GRCh38 UCSC
2: 166848437 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001165963.4:c.5348C>T MANE Select NP_001159435.1:p.Ala1783Val missense
NM_001165964.3:c.5264C>T NP_001159436.1:p.Ala1755Val missense
NM_001202435.3:c.5348C>T NP_001189364.1:p.Ala1783Val missense
... more HGVS
Protein change
A1772V, A1783V, A969V, A1754V, A1771V, A1755V
Other names
p.A1783V:GCG>GTG
Canonical SPDI
NC_000002.12:165991926:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs121917921
ClinGen: CA285024
UniProtKB/Swiss-Prot: VAR_064345
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jun 2, 2016 RCV000189000.6
Pathogenic 2 criteria provided, single submitter Dec 20, 2014 RCV000059446.5
Pathogenic 1 criteria provided, single submitter Sep 2, 2021 RCV001207693.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1646 3367
LOC102724058 - - - GRCh38 - 1673

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Dec 20, 2014)
criteria provided, single submitter
Method: research
Dravet syndrome
Affected status: yes
Allele origin: de novo
Center for Bioinformatics, Peking University
Additional submitter:
Pediatric Department, Peking University First Hospital
Study: University Clinical Cooperation “985 Project” PKU-2014-1-1
Accession: SCV000221927.1
First in ClinVar: Jul 02, 2015
Last updated: Jul 02, 2015
Comment:
Dravet syndrome (DS) probands were recruited from the outpatient and inpatient child neurology units of Peking University First Hospital from 2005 till present. The study … (more)
Publications:
PubMed (1)
PubMed: 26096185
Other databases
http://www.openbioinformatics.or… http://www.openbioinformatics.org/annovar/annovar_startup.html
Number of individuals with the variant: 1
Ethnicity/Population group: Chinese
Pathogenic
(Jun 02, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Eurofins NTD LLC (GA)
Accession: SCV000341355.4
First in ClinVar: Dec 06, 2016
Last updated: Dec 15, 2018
Publications:
PubMed (1)
PubMed: 18930999
Other databases
http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SCN1A
Number of individuals with the variant: 1
Zygosity: 1 Single Heterozygote
Sex: mixed
Pathogenic
(Mar 12, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000242631.11
First in ClinVar: Aug 07, 2015
Last updated: Dec 15, 2018
Comment:
p.Ala1783Val (GCG>GTG): c.5348 C>T in exon 26 of the SCN1A gene (NM_001165963.1) The Ala1783Val variant has been previously reported as a de novo mutation in … (more)
Pathogenic
(Sep 02, 2021)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy with suppression bursts
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001379057.3
First in ClinVar: Jul 16, 2020
Last updated: May 16, 2022
Publications:
PubMed (3)
PubMed: 175619571893099929460957
Comment:
This sequence change replaces alanine with valine at codon 1783 of the SCN1A protein (p.Ala1783Val). The alanine residue is highly conserved and there is a … (more)
not provided
(-)
no assertion provided
Method: not provided
Severe myoclonic epilepsy in infancy
Affected status: not provided
Allele origin: unknown
UniProtKB/Swiss-Prot
Accession: SCV000090971.1
First in ClinVar: Oct 31, 2013
Last updated: Oct 31, 2013

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
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes. de Lange IM Epilepsia 2018 PMID: 29460957
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome. Xu X Human mutation 2015 PMID: 26096185
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. Depienne C Journal of medical genetics 2009 PMID: 18930999
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Marini C Epilepsia 2007 PMID: 17561957
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SCN1A - - - -
http://www.openbioinformatics.org/annovar/annovar_startup.html - - - -

Text-mined citations for rs121917921...

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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 Jun 24, 2022