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NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000579916.2
Variation ID:
579916
Description:
single nucleotide variant
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NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)

Allele ID
557671
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166013838 (GRCh38) GRCh38 UCSC
2: 166870348 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_8:g.64802G>A
NC_000002.12:g.166013838C>T
NG_011906.1:g.64802G>A
... more HGVS
Protein change
W1193*, W1204*, W1175*, W390*, W1176*, W1192*
Other names
-
Canonical SPDI
NC_000002.12:166013837:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1559149128
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 Feb 16, 2018 RCV000703313.1
Pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000986888.1
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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
(Feb 16, 2018)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy
Allele origin: germline
Invitae
Accession: SCV000832210.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Trp1204*) in the SCN1A gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Severe myoclonic epilepsy in infancy
Allele origin: unknown
Mendelics
Accession: SCV001136038.1
Submitted: (Oct 22, 2019)
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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Sugawara T Neurology 2002 PMID: 11940708

Text-mined citations for rs1559149128...

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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