NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) AND Severe myoclonic epilepsy in infancy

Clinical significance:Pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000986888.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)]

NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)

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.3611G>A (p.Trp1204Ter)
HGVS:
  • NC_000002.12:g.166013838C>T
  • NG_011906.1:g.64802G>A
  • NM_001165963.4:c.3611G>AMANE SELECT
  • NM_001165964.3:c.3527G>A
  • NM_001202435.3:c.3611G>A
  • NM_001353948.2:c.3611G>A
  • NM_001353949.2:c.3578G>A
  • NM_001353950.2:c.3578G>A
  • NM_001353951.2:c.3578G>A
  • NM_001353952.2:c.3578G>A
  • NM_001353954.2:c.3575G>A
  • NM_001353955.2:c.3575G>A
  • NM_001353957.2:c.3527G>A
  • NM_001353958.2:c.3527G>A
  • NM_001353960.2:c.3524G>A
  • NM_001353961.2:c.1169G>A
  • NM_006920.6:c.3578G>A
  • NP_001159435.1:p.Trp1204Ter
  • NP_001159436.1:p.Trp1176Ter
  • NP_001189364.1:p.Trp1204Ter
  • NP_001340877.1:p.Trp1204Ter
  • NP_001340878.1:p.Trp1193Ter
  • NP_001340879.1:p.Trp1193Ter
  • NP_001340880.1:p.Trp1193Ter
  • NP_001340881.1:p.Trp1193Ter
  • NP_001340883.1:p.Trp1192Ter
  • NP_001340884.1:p.Trp1192Ter
  • NP_001340886.1:p.Trp1176Ter
  • NP_001340887.1:p.Trp1176Ter
  • NP_001340889.1:p.Trp1175Ter
  • NP_001340890.1:p.Trp390Ter
  • NP_008851.3:p.Trp1193Ter
  • LRG_8:g.64802G>A
  • NC_000002.11:g.166870348C>T
  • NM_001165963.1:c.3611G>A
  • NR_148667.2:n.3964G>A
Protein change:
W1175*
Links:
dbSNP: rs1559149128
NCBI 1000 Genomes Browser:
rs1559149128
Molecular consequence:
  • NR_148667.2:n.3964G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001165963.4:c.3611G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001165964.3:c.3527G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001202435.3:c.3611G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353948.2:c.3611G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353949.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353950.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353951.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353952.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353954.2:c.3575G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353955.2:c.3575G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353957.2:c.3527G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353958.2:c.3527G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353960.2:c.3524G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353961.2:c.1169G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006920.6:c.3578G>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)
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
SCV001136038Mendelicscriteria provided, single submitter
Pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001136038.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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