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NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val) AND Severe myoclonic epilepsy in infancy

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 20, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000059446.9

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)]

NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)

Genes:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)
Other names:
p.A1783V:GCG>GTG
HGVS:
  • NC_000002.12:g.165991927G>A
  • NG_011906.1:g.86713C>T
  • NM_001165963.4:c.5348C>TMANE SELECT
  • NM_001165964.3:c.5264C>T
  • NM_001202435.3:c.5348C>T
  • NM_001353948.2:c.5348C>T
  • NM_001353949.2:c.5315C>T
  • NM_001353950.2:c.5315C>T
  • NM_001353951.2:c.5315C>T
  • NM_001353952.2:c.5315C>T
  • NM_001353954.2:c.5312C>T
  • NM_001353955.2:c.5312C>T
  • NM_001353957.2:c.5264C>T
  • NM_001353958.2:c.5264C>T
  • NM_001353960.2:c.5261C>T
  • NM_001353961.2:c.2906C>T
  • NM_006920.6:c.5315C>T
  • NP_001159435.1:p.Ala1783Val
  • NP_001159436.1:p.Ala1755Val
  • NP_001189364.1:p.Ala1783Val
  • NP_001340877.1:p.Ala1783Val
  • NP_001340878.1:p.Ala1772Val
  • NP_001340879.1:p.Ala1772Val
  • NP_001340880.1:p.Ala1772Val
  • NP_001340881.1:p.Ala1772Val
  • NP_001340883.1:p.Ala1771Val
  • NP_001340884.1:p.Ala1771Val
  • NP_001340886.1:p.Ala1755Val
  • NP_001340887.1:p.Ala1755Val
  • NP_001340889.1:p.Ala1754Val
  • NP_001340890.1:p.Ala969Val
  • NP_008851.3:p.Ala1772Val
  • LRG_8t1:c.5315C>T
  • LRG_8:g.86713C>T
  • NC_000002.11:g.166848437G>A
  • NM_001165963.1:c.5348C>T
  • NM_006920.4:c.5315C>T
  • NR_148667.2:n.5765C>T
Protein change:
A1754V
Links:
UniProtKB/Swiss-Prot: VAR_064345; dbSNP: rs121917921
NCBI 1000 Genomes Browser:
rs121917921
Molecular consequence:
  • NM_001165963.4:c.5348C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.5264C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.5348C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.5348C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.5315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.5315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.5315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.5315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.5312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.5312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.5264C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.5264C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.5261C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.2906C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.5315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5765C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; SEVERE MYOCLONIC EPILEPSY OF INFANCY; Dravet syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090971UniProtKB/Swiss-Prot
no classification provided
not providedunknownnot provided

PubMed (1)
[See all records that cite this PMID]

SCV000221927Center for Bioinformatics, Peking University - University Clinical Cooperation “985 Project” PKU-2014-1-1

See additional submitters

criteria provided, single submitter

(Xu et al. (Hum Mutat. 2015))		Pathogenic
(Dec 20, 2014) 		de novoresearch

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only
Chinesede novoyes1not providednot providednot providednot providedresearch

Citations

PubMed

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R.

Epilepsia. 2007 Sep;48(9):1678-1685. doi: 10.1111/j.1528-1167.2007.01122.x. Epub 2007 Jun 11.

PubMed [citation]
PMID:
17561957

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Xu X, Yang X, Wu Q, Liu A, Yang X, Ye AY, Huang AY, Li J, Wang M, Yu Z, Wang S, Zhang Z, Wu X, Wei L, Zhang Y.

Hum Mutat. 2015 Sep;36(9):861-72. doi: 10.1002/humu.22819. Epub 2015 Jul 24.

PubMed [citation]
PMID:
26096185
PMCID:
PMC5034833

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090971.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

From Center for Bioinformatics, Peking University - University Clinical Cooperation “985 Project” PKU-2014-1-1, SCV000221927.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 14, 2025