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NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 7, 2020
Accession:
VCV000189917.3
Variation ID:
189917
Description:
single nucleotide variant
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NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val)

Allele ID
187809
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166041293 (GRCh38) GRCh38 UCSC
2: 166897803 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001353951.2:c.2320A>G NP_001340880.1:p.Met774Val missense
NM_001353952.2:c.2320A>G NP_001340881.1:p.Met774Val missense
NM_001353954.2:c.2317A>G NP_001340883.1:p.Met773Val missense
... more HGVS
Protein change
M774V, M785V, M757V, M773V, M756V
Other names
-
Canonical SPDI
NC_000002.12:166041292:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA303300
dbSNP: rs767045134
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 RCV000180869.1
Likely pathogenic 1 criteria provided, single submitter Jan 7, 2020 RCV001071061.2
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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
1309 2634

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: SCV000221836.1
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…
Likely pathogenic
(Jan 07, 2020)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy with suppression bursts
Allele origin: germline
Invitae
Accession: SCV001236343.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces methionine with valine at codon 785 of the SCN1A protein (p.Met785Val). The methionine residue is highly conserved and there is a … (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
http://www.openbioinformatics.org/annovar/annovar_startup.html - - - -

Text-mined citations for rs767045134...

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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