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NM_001165963.4(SCN1A):c.1377+20_1377+21delinsAT AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003753846.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.1377+20_1377+21delinsAT]

NM_001165963.4(SCN1A):c.1377+20_1377+21delinsAT

Gene:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.1377+20_1377+21delinsAT
HGVS:
  • NC_000002.12:g.166046749_166046750delinsAT
  • NG_011906.1:g.31890_31891delinsAT
  • NM_001165963.4:c.1377+20_1377+21delinsATMANE SELECT
  • NM_001165964.3:c.1377+20_1377+21delinsAT
  • NM_001202435.3:c.1377+20_1377+21delinsAT
  • NM_001353948.2:c.1377+20_1377+21delinsAT
  • NM_001353949.2:c.1377+20_1377+21delinsAT
  • NM_001353950.2:c.1377+20_1377+21delinsAT
  • NM_001353951.2:c.1377+20_1377+21delinsAT
  • NM_001353952.2:c.1377+20_1377+21delinsAT
  • NM_001353954.2:c.1377+20_1377+21delinsAT
  • NM_001353955.2:c.1377+20_1377+21delinsAT
  • NM_001353957.2:c.1377+20_1377+21delinsAT
  • NM_001353958.2:c.1377+20_1377+21delinsAT
  • NM_001353960.2:c.1377+20_1377+21delinsAT
  • NM_001353961.2:c.-1049+20_-1049+21delinsAT
  • NM_006920.6:c.1377+20_1377+21delinsAT
  • LRG_8:g.31890_31891delinsAT
  • NC_000002.11:g.166903259_166903260delinsAT
Molecular consequence:
  • NM_001165963.4:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001165964.3:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001202435.3:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353948.2:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353949.2:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353950.2:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353951.2:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353952.2:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353954.2:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353955.2:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353957.2:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353958.2:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353960.2:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353961.2:c.-1049+20_-1049+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006920.6:c.1377+20_1377+21delinsAT - intron variant - [Sequence Ontology: SO:0001627]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004555101Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 26, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004555101.1

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

Description

This sequence change falls in intron 9 of the SCN1A gene. It does not directly change the encoded amino acid sequence of the SCN1A protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database.

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

Last Updated: Sep 29, 2024