NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met) 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:: RCV000059539.3

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)]

NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)

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.5346C>G (p.Ile1782Met)

HGVS:

NC_000002.12:g.165991929G>C
NG_011906.1:g.86711C>G
NM_001165963.4:c.5346C>GMANE SELECT
NM_001165964.3:c.5262C>G
NM_001202435.3:c.5346C>G
NM_001353948.2:c.5346C>G
NM_001353949.2:c.5313C>G
NM_001353950.2:c.5313C>G
NM_001353951.2:c.5313C>G
NM_001353952.2:c.5313C>G
NM_001353954.2:c.5310C>G
NM_001353955.2:c.5310C>G
NM_001353957.2:c.5262C>G
NM_001353958.2:c.5262C>G
NM_001353960.2:c.5259C>G
NM_001353961.2:c.2904C>G
NM_006920.6:c.5313C>G
NP_001159435.1:p.Ile1782Met
NP_001159436.1:p.Ile1754Met
NP_001189364.1:p.Ile1782Met
NP_001340877.1:p.Ile1782Met
NP_001340878.1:p.Ile1771Met
NP_001340879.1:p.Ile1771Met
NP_001340880.1:p.Ile1771Met
NP_001340881.1:p.Ile1771Met
NP_001340883.1:p.Ile1770Met
NP_001340884.1:p.Ile1770Met
NP_001340886.1:p.Ile1754Met
NP_001340887.1:p.Ile1754Met
NP_001340889.1:p.Ile1753Met
NP_001340890.1:p.Ile968Met
NP_008851.3:p.Ile1771Met
LRG_8t1:c.5313C>G
LRG_8:g.86711C>G
NC_000002.11:g.166848439G>C
NM_001165963.1:c.5346C>G
NM_006920.4:c.5313C>G
NR_148667.2:n.5763C>G

Protein change:

I1753M

Links:

UniProtKB/Swiss-Prot: VAR_064274; dbSNP: rs121918763

NCBI 1000 Genomes Browser:

rs121918763

Molecular consequence:

NM_001165963.4:c.5346C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.5262C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.5346C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.5346C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.5313C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.5313C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.5313C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.5313C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.5310C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.5310C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.5262C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.5262C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.5259C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353961.2:c.2904C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.5313C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.5763C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:: Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000091071	UniProtKB/Swiss-Prot	no classification provided	not provided	germline	not provided	PubMed (1) [See all records that cite this PMID]
SCV000221841	Center for Bioinformatics, Peking University - University Clinical Cooperation “985 Project” PKU-2014-1-1 See additional submitters Pediatric Department, Peking University First Hospital	criteria provided, single submitter (Xu et al. (Hum Mutat. 2015))	Pathogenic (Dec 20, 2014)	de novo	research	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000091071

UniProtKB/Swiss-Prot

no classification provided

not provided

germline

not provided

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

SCV000221841

Center 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 novo

research

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	1	not provided	literature only
Chinese	de novo	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E.

J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328.

PubMed [citation]

PMID:: 20522430

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, SCV000091071.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Bioinformatics, Peking University - University Clinical Cooperation “985 Project” PKU-2014-1-1, SCV000221841.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Chinese	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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