NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) AND Severe myoclonic epilepsy in infancy

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Mar 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000013756.28

Allele description [Variation Report for NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)]

NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)

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.4831G>T (p.Val1611Phe)

HGVS:

NC_000002.12:g.165994167C>A
NG_011906.1:g.84473G>T
NM_001165963.4:c.4831G>TMANE SELECT
NM_001165964.3:c.4747G>T
NM_001202435.3:c.4831G>T
NM_001353948.2:c.4831G>T
NM_001353949.2:c.4798G>T
NM_001353950.2:c.4798G>T
NM_001353951.2:c.4798G>T
NM_001353952.2:c.4798G>T
NM_001353954.2:c.4795G>T
NM_001353955.2:c.4795G>T
NM_001353957.2:c.4747G>T
NM_001353958.2:c.4747G>T
NM_001353960.2:c.4744G>T
NM_001353961.2:c.2389G>T
NM_006920.6:c.4798G>T
NP_001159435.1:p.Val1611Phe
NP_001159436.1:p.Val1583Phe
NP_001189364.1:p.Val1611Phe
NP_001340877.1:p.Val1611Phe
NP_001340878.1:p.Val1600Phe
NP_001340879.1:p.Val1600Phe
NP_001340880.1:p.Val1600Phe
NP_001340881.1:p.Val1600Phe
NP_001340883.1:p.Val1599Phe
NP_001340884.1:p.Val1599Phe
NP_001340886.1:p.Val1583Phe
NP_001340887.1:p.Val1583Phe
NP_001340889.1:p.Val1582Phe
NP_001340890.1:p.Val797Phe
NP_008851.3:p.Val1600Phe
LRG_8t1:c.4798G>T
LRG_8:g.84473G>T
NC_000002.11:g.166850677C>A
NM_001165963.1:c.4831G>T
NM_006920.4:c.4798G>T
NR_148667.2:n.5248G>T

Protein change:

V1582F; VAL1611PHE

Links:

UniProtKB/Swiss-Prot: VAR_029706; OMIM: 182389.0014; dbSNP: rs121918630

NCBI 1000 Genomes Browser:

rs121918630

Molecular consequence:

NM_001165963.4:c.4831G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.4747G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.4831G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.4831G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.4798G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.4798G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.4798G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.4798G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.4795G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.4795G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.4747G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.4747G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.4744G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001353961.2:c.2389G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.4798G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.5248G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

Acceleration of entry into slow inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0103]
Acceleration of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0046]
Decrease of decay in current amplitude in use dependence [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0133]
Mild decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0085]
Mild hyperpolarizing shift of voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0067]
Moderate hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0030]
Moderate increase in persistent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0042]
Normal rate of recovery from fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0054]
Normal recovery from slow inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0108]
Normal slope of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0036]
Normal slope of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0074]
Normal slope of slow inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0122]
Normal voltage dependence of slow inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0118]
Overall mixed or unclear functional effect with respect to biophysical channel activity [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0148]

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
SCV000034003	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000091047	UniProtKB/Swiss-Prot	no classification provided	not provided	germline	not provided	PubMed (1) [See all records that cite this PMID]
SCV004809300	Channelopathy-Associated Epilepsy Research Center	no classification provided	not provided	not applicable	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034003

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2003)

germline

literature only

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

SCV000091047

UniProtKB/Swiss-Prot

no classification provided

not provided

germline

not provided

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

SCV004809300

Channelopathy-Associated Epilepsy Research Center

no classification provided

not provided

not applicable

literature only

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

Description

Intractable childhood epilepsy with generalized tonic-clonic seizures: SCV000091047

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
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y.

Brain. 2003 Mar;126(Pt 3):531-46.

PubMed [citation]

PMID:: 12566275

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

Rhodes TH, Vanoye CG, Ohmori I, Ogiwara I, Yamakawa K, George AL Jr.

J Physiol. 2005 Dec 1;569(Pt 2):433-45. Epub 2005 Oct 6.

PubMed [citation]

PMID:: 16210358
PMCID:: PMC1464244

Details of each submission

From OMIM, SCV000034003.4

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

Description

In a patient with a Dravet syndrome (DRVT; 607208), Fujiwara et al. (2003) identified a heterozygous c.4831G-T transversion in the SCN1A gene, resulting in a val1611-to-phe (V1611F) substitution in domain IV of the protein. The patient's mother, who also had the mutation, had a history of febrile seizures consistent with GEFS+ (GEFSP2; 604403). The V1611F substitution was not identified in 93 control chromosomes.

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

From UniProtKB/Swiss-Prot, SCV000091047.1

#	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 Channelopathy-Associated Epilepsy Research Center, SCV004809300.1

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

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

Last Updated: Apr 15, 2024

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