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NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 2, 2018)
Last evaluated:
Sep 5, 2017
Accession:
VCV000189975.1
Variation ID:
189975
Description:
single nucleotide variant
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NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)

Allele ID
187779
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166036371 (GRCh38) GRCh38 UCSC
2: 166892881 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_8:g.42269C>T
NC_000002.11:g.166892881G>A
NC_000002.12:g.166036371G>A
... more HGVS
Protein change
Q1025*, Q1036*, Q1008*, Q222*, Q1024*, Q1007*
Other names
-
Canonical SPDI
NC_000002.12:166036370:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
-
Links
ClinGen: CA303458
dbSNP: rs542420576
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Dec 20, 2014 RCV000180930.1
Pathogenic 1 criteria provided, single submitter Sep 5, 2017 RCV000636324.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1341 2698
LOC102724058 - - - GRCh38 - 1321

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: SCV000221910.1
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…
Pathogenic
(Sep 05, 2017)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy with suppression bursts
Allele origin: germline
Invitae
Accession: SCV000757763.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Gln1036*) in the SCN1A gene. It is expected to result in an absent or disrupted protein … (more)

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
SCN1A mutational analysis in Korean patients with Dravet syndrome. Lim BC Seizure 2011 PMID: 21868258
http://www.openbioinformatics.org/annovar/annovar_startup.html - - - -

Text-mined citations for rs542420576...

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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