NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) AND Early infantile epileptic encephalopathy with suppression bursts

Clinical significance:Pathogenic (Last evaluated: Feb 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000703313.1

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:
Early infantile epileptic encephalopathy with suppression bursts (EIEE)
Synonyms:
Early infantile epileptic encephalopathy; Ohtahara syndrome; Developmental and epileptic encephalopathy
Identifiers:
MONDO: MONDO:0100062; MedGen: C0393706; Orphanet: 1934; OMIM: PS308350

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000832210Invitaecriteria provided, single submitter
Pathogenic
(Feb 16, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.

Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K.

Neurology. 2002 Apr 9;58(7):1122-4.

PubMed [citation]
PMID:
11940708

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000832210.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Trp1204*) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with severe myoclonicepilepsy in infancy (SMEI) (PMID: 11940708). This variant has also been reported as p.Trp1193*. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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