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NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 7, 2015)
Last evaluated:
Dec 20, 2014
Accession:
VCV000068637.1
Variation ID:
68637
Description:
single nucleotide variant
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NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)

Allele ID
79529
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 165994241 (GRCh38) GRCh38 UCSC
2: 166850751 (GRCh37) GRCh37 UCSC
2: 166558997 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.166850751C>T
NC_000002.12:g.165994241C>T
NG_011906.1:g.84399G>A
... more HGVS
Protein change
G1575E, G1558E, G1586E, G1574E, G1557E, G772E
Other names
-
Canonical SPDI
NC_000002.12:165994240:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
-
Links
ClinGen: CA285180
UniProtKB/Swiss-Prot: VAR_064266
dbSNP: rs121918742
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, single submitter Dec 20, 2014 RCV000059516.2
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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
1308 2631
LOC102724058 - - - GRCh38 - 1287

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 20, 2014)
criteria provided, single submitter
Method: research
Dravet syndrome
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: SCV000221857.1
Submitted: (Mar 07, 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)
Evidence details
Publications
PubMed (1)
Other databases
http://www.openbioinformatics.or…
not provided
(-)
no assertion provided
Method: not provided
Severe myoclonic epilepsy in infancy
Allele origin: germline
UniProtKB/Swiss-Prot
Accession: SCV000091046.1
Submitted: (Apr 28, 2011)
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
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
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. Sun H Journal of human genetics 2010 PMID: 20431604
http://www.openbioinformatics.org/annovar/annovar_startup.html - - - -

Text-mined citations for rs121918742...

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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 Oct 08, 2021