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NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 26, 2021)
Last evaluated:
Apr 25, 2021
Accession:
VCV001065176.1
Variation ID:
1065176
Description:
single nucleotide variant
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NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)

Allele ID
1053489
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 165991967 (GRCh38) GRCh38 UCSC
2: 166848477 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001353955.2:c.5272A>T NP_001340884.1:p.Ile1758Phe missense
NM_001353957.2:c.5224A>T NP_001340886.1:p.Ile1742Phe missense
NM_001353958.2:c.5224A>T NP_001340887.1:p.Ile1742Phe missense
... more HGVS
Protein change
I1741F, I1742F, I1758F, I1759F, I1770F, I956F
Other names
-
Canonical SPDI
NC_000002.12:165991966:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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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 Apr 25, 2021 RCV001375625.1
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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
1309 2632
LOC102724058 - - - GRCh38 - 1287

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 25, 2021)
criteria provided, single submitter
Method: clinical testing
Severe myoclonic epilepsy in infancy
(Autosomal dominant inheritance)
Allele origin: de novo
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
Accession: SCV001572547.1
Submitted: (Apr 26, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021