NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) AND Early infantile epileptic encephalopathy with suppression bursts

Clinical significance:Likely benign (Last evaluated: Nov 15, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001393461.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His)]

NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His)

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.4724G>A (p.Arg1575His)
Other names:
p.R1575H:CGC>CAC
HGVS:
  • NC_000002.12:g.165994274C>T
  • NG_011906.1:g.84366G>A
  • NM_001165963.4:c.4724G>AMANE SELECT
  • NM_001165963.4:c.4724G>A
  • NM_001165964.3:c.4640G>A
  • NM_001202435.3:c.4724G>A
  • NM_001353948.2:c.4724G>A
  • NM_001353949.2:c.4691G>A
  • NM_001353950.2:c.4691G>A
  • NM_001353951.2:c.4691G>A
  • NM_001353952.2:c.4691G>A
  • NM_001353954.2:c.4688G>A
  • NM_001353955.2:c.4688G>A
  • NM_001353957.2:c.4640G>A
  • NM_001353958.2:c.4640G>A
  • NM_001353960.2:c.4637G>A
  • NM_001353961.2:c.2282G>A
  • NM_006920.6:c.4691G>A
  • NP_001159435.1:p.Arg1575His
  • NP_001159436.1:p.Arg1547His
  • NP_001189364.1:p.Arg1575His
  • NP_001340877.1:p.Arg1575His
  • NP_001340878.1:p.Arg1564His
  • NP_001340879.1:p.Arg1564His
  • NP_001340880.1:p.Arg1564His
  • NP_001340881.1:p.Arg1564His
  • NP_001340883.1:p.Arg1563His
  • NP_001340884.1:p.Arg1563His
  • NP_001340886.1:p.Arg1547His
  • NP_001340887.1:p.Arg1547His
  • NP_001340889.1:p.Arg1546His
  • NP_001340890.1:p.Arg761His
  • NP_008851.3:p.Arg1564His
  • LRG_8:g.84366G>A
  • NC_000002.11:g.166850784C>T
  • NM_001165963.1:c.4724G>A
  • NR_148667.2:n.5141G>A
Protein change:
R1546H
Links:
dbSNP: rs368834365
NCBI 1000 Genomes Browser:
rs368834365
Molecular consequence:
  • NM_001165963.4:c.4724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.4640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.4724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.4724G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.4691G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.4691G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.4691G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.4691G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.4688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.4688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.4640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.4640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.4637G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.2282G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.4691G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5141G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001595123Invitaecriteria provided, single submitter
Likely benign
(Nov 15, 2020)
germlineclinical testing

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

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001595123.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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