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NM_001040142.2(SCN2A):c.1108T>C (p.Phe370Leu) AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 16, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001847341.3

Allele description [Variation Report for NM_001040142.2(SCN2A):c.1108T>C (p.Phe370Leu)]

NM_001040142.2(SCN2A):c.1108T>C (p.Phe370Leu)

Gene:
SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001040142.2(SCN2A):c.1108T>C (p.Phe370Leu)
Other names:
NM_001040142.2(SCN2A):c.1108T>C; p.Phe370Leu
HGVS:
  • NC_000002.12:g.165313693T>C
  • NG_008143.1:g.79292T>C
  • NM_001040142.2:c.1108T>CMANE SELECT
  • NM_001040143.2:c.1108T>C
  • NM_001371246.1:c.1108T>C
  • NM_001371247.1:c.1108T>C
  • NM_021007.3:c.1108T>C
  • NP_001035232.1:p.Phe370Leu
  • NP_001035233.1:p.Phe370Leu
  • NP_001358175.1:p.Phe370Leu
  • NP_001358176.1:p.Phe370Leu
  • NP_066287.2:p.Phe370Leu
  • NC_000002.11:g.166170203T>C
  • NM_001040142.1:c.1108T>C
Protein change:
F370L
Links:
dbSNP: rs796053177
NCBI 1000 Genomes Browser:
rs796053177
Molecular consequence:
  • NM_001040142.2:c.1108T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.1108T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.1108T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.1108T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.1108T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002099456Neurology Department, Shenzhen Children's Hospital
no assertion criteria provided
Pathogenic
(Feb 16, 2022) 		de novoclinical testing

Help

Summary from all submissions

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

Details of each submission

From Neurology Department, Shenzhen Children's Hospital, SCV002099456.1

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

Last Updated: Jun 29, 2024