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NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser) AND Severe myoclonic epilepsy in infancy

Germline classification:
not provided (2 submissions)
Review status:
no classification 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:
RCV000059518.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser)]

NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser)

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.4894C>T (p.Pro1632Ser)
HGVS:
  • NC_000002.12:g.165992381G>A
  • NG_011906.1:g.86259C>T
  • NM_001165963.4:c.4894C>TMANE SELECT
  • NM_001165964.3:c.4810C>T
  • NM_001202435.3:c.4894C>T
  • NM_001353948.2:c.4894C>T
  • NM_001353949.2:c.4861C>T
  • NM_001353950.2:c.4861C>T
  • NM_001353951.2:c.4861C>T
  • NM_001353952.2:c.4861C>T
  • NM_001353954.2:c.4858C>T
  • NM_001353955.2:c.4858C>T
  • NM_001353957.2:c.4810C>T
  • NM_001353958.2:c.4810C>T
  • NM_001353960.2:c.4807C>T
  • NM_001353961.2:c.2452C>T
  • NM_006920.6:c.4861C>T
  • NP_001159435.1:p.Pro1632Ser
  • NP_001159436.1:p.Pro1604Ser
  • NP_001189364.1:p.Pro1632Ser
  • NP_001340877.1:p.Pro1632Ser
  • NP_001340878.1:p.Pro1621Ser
  • NP_001340879.1:p.Pro1621Ser
  • NP_001340880.1:p.Pro1621Ser
  • NP_001340881.1:p.Pro1621Ser
  • NP_001340883.1:p.Pro1620Ser
  • NP_001340884.1:p.Pro1620Ser
  • NP_001340886.1:p.Pro1604Ser
  • NP_001340887.1:p.Pro1604Ser
  • NP_001340889.1:p.Pro1603Ser
  • NP_001340890.1:p.Pro818Ser
  • NP_008851.3:p.Pro1621Ser
  • LRG_8t1:c.4861C>T
  • LRG_8:g.86259C>T
  • NC_000002.11:g.166848891G>A
  • NM_001165963.1:c.4894C>T
  • NM_006920.4:c.4861C>T
  • NR_148667.2:n.5311C>T
Protein change:
P1603S
Links:
UniProtKB/Swiss-Prot: VAR_029707; dbSNP: rs121918755
NCBI 1000 Genomes Browser:
rs121918755
Molecular consequence:
  • NM_001165963.4:c.4894C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.4810C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.4894C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.4894C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.4861C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.4861C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.4861C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.4861C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.4858C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.4858C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.4810C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.4810C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.4807C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.2452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.4861C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5311C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
  • 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]
  • Increase in slope of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0035]
  • Increase in slope of slow inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0121]
  • Moderate hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0030]
  • Moderate hyperpolarizing shift of voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0068]
  • Moderate increase in persistent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0042]
  • Normal peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0096]
  • Normal rate of recovery from fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0054]
  • Normal slope of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0074]
  • 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]
  • Slowing of entry into slow inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0105]
  • Slowing of recovery from slow inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0109]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000091049UniProtKB/Swiss-Prot
no classification provided
not providedgermlinenot provided

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

SCV004809272Channelopathy-Associated Epilepsy Research Center
no classification provided
not providednot applicableliterature only

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

Description

Intractable childhood epilepsy with generalized tonic-clonic seizures

SCV000091049

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only
not providednot applicablenot applicablenot providednot providednot providednot providednot providedliterature 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 UniProtKB/Swiss-Prot, SCV000091049.1

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

From Channelopathy-Associated Epilepsy Research Center, SCV004809272.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024