NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter) AND Severe myoclonic epilepsy in infancy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 25, 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:: RCV000201173.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)]

NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)

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.5436G>A (p.Trp1812Ter)

HGVS:

NC_000002.12:g.165991839C>T
NG_011906.1:g.86801G>A
NM_001165963.4:c.5436G>AMANE SELECT
NM_001165964.3:c.5352G>A
NM_001202435.3:c.5436G>A
NM_001353948.2:c.5436G>A
NM_001353949.2:c.5403G>A
NM_001353950.2:c.5403G>A
NM_001353951.2:c.5403G>A
NM_001353952.2:c.5403G>A
NM_001353954.2:c.5400G>A
NM_001353955.2:c.5400G>A
NM_001353957.2:c.5352G>A
NM_001353958.2:c.5352G>A
NM_001353960.2:c.5349G>A
NM_001353961.2:c.2994G>A
NM_006920.6:c.5403G>A
NP_001159435.1:p.Trp1812Ter
NP_001159436.1:p.Trp1784Ter
NP_001189364.1:p.Trp1812Ter
NP_001340877.1:p.Trp1812Ter
NP_001340878.1:p.Trp1801Ter
NP_001340879.1:p.Trp1801Ter
NP_001340880.1:p.Trp1801Ter
NP_001340881.1:p.Trp1801Ter
NP_001340883.1:p.Trp1800Ter
NP_001340884.1:p.Trp1800Ter
NP_001340886.1:p.Trp1784Ter
NP_001340887.1:p.Trp1784Ter
NP_001340889.1:p.Trp1783Ter
NP_001340890.1:p.Trp998Ter
NP_008851.3:p.Trp1801Ter
LRG_8:g.86801G>A
NC_000002.11:g.166848349C>T
NM_001165963.1:c.5436G>A
NR_148667.2:n.5853G>A
AB093548.1:c.5436G>A;p.Trp1812*

Protein change:

W1783*

Links:

dbSNP: rs863225037

NCBI 1000 Genomes Browser:

rs863225037

Molecular consequence:

NR_148667.2:n.5853G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001165963.4:c.5436G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001165964.3:c.5352G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001202435.3:c.5436G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353948.2:c.5436G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353949.2:c.5403G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353950.2:c.5403G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353951.2:c.5403G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353952.2:c.5403G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353954.2:c.5400G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353955.2:c.5400G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353957.2:c.5352G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353958.2:c.5352G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353960.2:c.5349G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353961.2:c.2994G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_006920.6:c.5403G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

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Rabbit mRNA for lactase-phlorizin hydrolase LPH (EC 3.2.1.23-62)
Rabbit mRNA for lactase-phlorizin hydrolase LPH (EC 3.2.1.23-62)
gi|1616|emb|X07995.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000255833	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Nov 25, 2014)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17347258, 22409937, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000255833

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Nov 25, 2014)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The spectrum of SCN1A-related infantile epileptic encephalopathies.

Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium., Sutherland G, Berkovic SF, et al.

Brain. 2007 Mar;130(Pt 3):843-52.

PubMed [citation]

PMID:: 17347258

Progressive gait deterioration in adolescents with Dravet syndrome.

Rodda JM, Scheffer IE, McMahon JM, Berkovic SF, Graham HK.

Arch Neurol. 2012 Jul;69(7):873-8.

PubMed [citation]

PMID:: 22409937

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV000255833.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Sep 29, 2024

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