NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr) AND Severe myoclonic epilepsy in infancy

Germline classification:: Pathogenic (1 submission)
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:: RCV000180845.3

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr)]

NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr)

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.5780G>C (p.Arg1927Thr)

HGVS:

NC_000002.12:g.165991495C>G
NG_011906.1:g.87145G>C
NM_001165963.4:c.5780G>CMANE SELECT
NM_001165964.3:c.5696G>C
NM_001202435.3:c.5780G>C
NM_001353948.2:c.5780G>C
NM_001353949.2:c.5747G>C
NM_001353950.2:c.5747G>C
NM_001353951.2:c.5747G>C
NM_001353952.2:c.5747G>C
NM_001353954.2:c.5744G>C
NM_001353955.2:c.5744G>C
NM_001353957.2:c.5696G>C
NM_001353958.2:c.5696G>C
NM_001353960.2:c.5693G>C
NM_001353961.2:c.3338G>C
NM_006920.6:c.5747G>C
NP_001159435.1:p.Arg1927Thr
NP_001159436.1:p.Arg1899Thr
NP_001189364.1:p.Arg1927Thr
NP_001340877.1:p.Arg1927Thr
NP_001340878.1:p.Arg1916Thr
NP_001340879.1:p.Arg1916Thr
NP_001340880.1:p.Arg1916Thr
NP_001340881.1:p.Arg1916Thr
NP_001340883.1:p.Arg1915Thr
NP_001340884.1:p.Arg1915Thr
NP_001340886.1:p.Arg1899Thr
NP_001340887.1:p.Arg1899Thr
NP_001340889.1:p.Arg1898Thr
NP_001340890.1:p.Arg1113Thr
NP_008851.3:p.Arg1916Thr
LRG_8:g.87145G>C
NC_000002.11:g.166848005C>G
NM_001165963.1:c.5780G>C
NR_148667.2:n.6197G>C

Protein change:

R1113T

Links:

dbSNP: rs794726737

NCBI 1000 Genomes Browser:

rs794726737

Molecular consequence:

NM_001165963.4:c.5780G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.5696G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.5780G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.5780G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.5747G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.5747G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.5747G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.5747G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.5744G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.5744G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.5696G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.5696G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.5693G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001353961.2:c.3338G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.5747G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.6197G>C - 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
SCV000221810	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

SCV000221810

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
Chinese	de novo	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

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 Center for Bioinformatics, Peking University - University Clinical Cooperation “985 Project” PKU-2014-1-1, SCV000221810.1

#	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: Jun 23, 2024

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