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NM_001165963.1(SCN1A):c.694+5G>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Sep 28, 2017
Accession:
VCV000167647.1
Variation ID:
167647
Description:
single nucleotide variant
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NM_001165963.1(SCN1A):c.694+5G>C

Allele ID
178046
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166052847 (GRCh38) GRCh38 UCSC
2: 166909357 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.166909357C>G
NC_000002.12:g.166052847C>G
NM_006920.4:c.694+5G>C
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs727504142
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 28, 2017 RCV000153902.4
Pathogenic 1 criteria provided, single submitter Dec 20, 2014 RCV000180927.1
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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
726 1491

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:
Department of Pediatrics,Peking University First hospital
Study: University Clinical Cooperation “985 Project” PKU-2014-1-1
Accession: SCV000221907.1
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....
Uncertain significance
(Sep 28, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000203515.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
http://www.molgen.vib-ua.be/sc...

Citations for this variant

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SCN1A - - - -
http://www.molgen.vib-ua.be/scn1amutations/Home/Default.cfm - - - -
http://www.openbioinformatics.org/annovar/annovar_startup.html - - - -

Record last updated Jun 17, 2019