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NM_006920.6(SCN1A):c.4411A>C (p.Ile1471Leu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000202173.2
Variation ID:
202173
Description:
single nucleotide variant
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NM_006920.6(SCN1A):c.4411A>C (p.Ile1471Leu)

Allele ID
198608
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 165998070 (GRCh38) GRCh38 UCSC
2: 166854580 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.166854580T>G
NC_000002.12:g.165998070T>G
NM_001202435.3:c.4444A>C NP_001189364.1:p.Ile1482Leu missense
... more HGVS
Protein change
I1471L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA275462
dbSNP: rs794729200
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000986878.1
Likely pathogenic 1 no assertion criteria provided Feb 18, 2013 RCV000184019.1
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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
881 1751
LOC102724058 - - - GRCh38 - 851

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Severe myoclonic epilepsy in infancy
Allele origin: unknown
Mendelics
Accession: SCV001136026.1
Submitted: (Oct 22, 2019)
Evidence details
Likely pathogenic
(Feb 18, 2013)
no assertion criteria provided
Method: clinical testing
Generalized epilepsy with febrile seizures plus, type 2
Allele origin: unknown
Mendelics
Accession: SCV000236550.1
Submitted: (Jun 21, 2015)
Evidence details
Publications
PubMed (3)

Citations for this variant

Title Author Journal Year Link
<i>SCN1A</i> Seizure Disorders Miller IO - 2019 PMID: 20301494
Sodium channel SCN1A and epilepsy: mutations and mechanisms. Escayg A Epilepsia 2010 PMID: 20831750
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Berkovic SF The Lancet. Neurology 2006 PMID: 16713920

Record last updated Jan 09, 2020