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NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2018
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:
RCV001849352.2

Allele description [Variation Report for NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)]

NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)

Gene:
CACNA1E:calcium voltage-gated channel subunit alpha1 E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.3
Genomic location:
Preferred name:
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
HGVS:
  • NC_000001.11:g.181651440G>A
  • NG_050616.1:g.173130G>A
  • NM_000721.4:c.1054G>A
  • NM_001205293.3:c.1054G>AMANE SELECT
  • NM_001205294.2:c.1054G>A
  • NP_000712.2:p.Gly352Arg
  • NP_001192222.1:p.Gly352Arg
  • NP_001192223.1:p.Gly352Arg
  • NC_000001.10:g.181620576G>A
  • NM_000721.3:c.1054G>A
  • NM_001205293.1:c.1054G>A
Protein change:
G352R; GLY352ARG
Links:
OMIM: 601013.0005; dbSNP: rs886039323
NCBI 1000 Genomes Browser:
rs886039323
Molecular consequence:
  • NM_000721.4:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001205293.3:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001205294.2:c.1054G>A - 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
SCV002106530Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Likely pathogenic
(Nov 1, 2018) 		de novoliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes9not providednot providednot providednot providedliterature only

Citations

PubMed

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, et al.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015.

PubMed [citation]
PMID:
30343943
PMCID:
PMC6216110

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106530.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided9not providednot providednot provided

Last Updated: Oct 26, 2024