NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) AND Severe myoclonic epilepsy in infancy

Clinical significance:Pathogenic (Last evaluated: Feb 19, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001194613.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)]

NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)

Gene:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)
HGVS:
  • NC_000002.12:g.166044010G>A
  • NG_011906.1:g.34630C>T
  • NM_001165963.4:c.1702C>TMANE SELECT
  • NM_001165964.3:c.1702C>T
  • NM_001202435.3:c.1702C>T
  • NM_001353948.2:c.1702C>T
  • NM_001353949.2:c.1702C>T
  • NM_001353950.2:c.1702C>T
  • NM_001353951.2:c.1702C>T
  • NM_001353952.2:c.1702C>T
  • NM_001353954.2:c.1699C>T
  • NM_001353955.2:c.1699C>T
  • NM_001353957.2:c.1702C>T
  • NM_001353958.2:c.1702C>T
  • NM_001353960.2:c.1699C>T
  • NM_001353961.2:c.-724C>T
  • NM_006920.6:c.1702C>T
  • NP_001159435.1:p.Arg568Ter
  • NP_001159436.1:p.Arg568Ter
  • NP_001189364.1:p.Arg568Ter
  • NP_001340877.1:p.Arg568Ter
  • NP_001340878.1:p.Arg568Ter
  • NP_001340879.1:p.Arg568Ter
  • NP_001340880.1:p.Arg568Ter
  • NP_001340881.1:p.Arg568Ter
  • NP_001340883.1:p.Arg567Ter
  • NP_001340884.1:p.Arg567Ter
  • NP_001340886.1:p.Arg568Ter
  • NP_001340887.1:p.Arg568Ter
  • NP_001340889.1:p.Arg567Ter
  • NP_008851.3:p.Arg568Ter
  • LRG_8:g.34630C>T
  • NC_000002.11:g.166900520G>A
  • NM_001165963.1:c.1702C>T
  • NM_001165963.3:c.1702C>T
  • NR_148667.2:n.2088C>T
Protein change:
R567*
Links:
dbSNP: rs886039430
NCBI 1000 Genomes Browser:
rs886039430
Molecular consequence:
  • NM_001353961.2:c.-724C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_148667.2:n.2088C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001165963.4:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001165964.3:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001202435.3:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353948.2:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353949.2:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353950.2:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353951.2:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353952.2:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353954.2:c.1699C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353955.2:c.1699C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353957.2:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353958.2:c.1702C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353960.2:c.1699C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006920.6:c.1702C>T - 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)
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001364267Laboratory of Medical Genetics, National & Kapodistrian University of Athensno assertion criteria providedPathogenic
(Feb 19, 2020)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, Gupta S, Webster R, Procopis PG, Menezes MP, Antony J, Ardern-Holmes S, Dale RC, Christodoulou J, Gill D, Bennetts B.

Seizure. 2018 Jul;59:132-140. doi: 10.1016/j.seizure.2018.05.005. Epub 2018 May 28.

PubMed [citation]
PMID:
29852413

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV001364267.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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