NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) AND Severe myoclonic epilepsy in infancy

Clinical significance:Pathogenic (Last evaluated: Nov 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001253286.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)]

NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)

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.5468T>C (p.Met1823Thr)
HGVS:
  • NC_000002.12:g.165991807A>G
  • NG_011906.1:g.86833T>C
  • NM_001165963.4:c.5468T>CMANE SELECT
  • NM_001165964.3:c.5384T>C
  • NM_001202435.3:c.5468T>C
  • NM_001353948.2:c.5468T>C
  • NM_001353949.2:c.5435T>C
  • NM_001353950.2:c.5435T>C
  • NM_001353951.2:c.5435T>C
  • NM_001353952.2:c.5435T>C
  • NM_001353954.2:c.5432T>C
  • NM_001353955.2:c.5432T>C
  • NM_001353957.2:c.5384T>C
  • NM_001353958.2:c.5384T>C
  • NM_001353960.2:c.5381T>C
  • NM_001353961.2:c.3026T>C
  • NM_006920.6:c.5435T>C
  • NP_001159435.1:p.Met1823Thr
  • NP_001159436.1:p.Met1795Thr
  • NP_001189364.1:p.Met1823Thr
  • NP_001340877.1:p.Met1823Thr
  • NP_001340878.1:p.Met1812Thr
  • NP_001340879.1:p.Met1812Thr
  • NP_001340880.1:p.Met1812Thr
  • NP_001340881.1:p.Met1812Thr
  • NP_001340883.1:p.Met1811Thr
  • NP_001340884.1:p.Met1811Thr
  • NP_001340886.1:p.Met1795Thr
  • NP_001340887.1:p.Met1795Thr
  • NP_001340889.1:p.Met1794Thr
  • NP_001340890.1:p.Met1009Thr
  • NP_008851.3:p.Met1812Thr
  • LRG_8:g.86833T>C
  • NC_000002.11:g.166848317A>G
  • NM_001165963.1:c.5468T>C
  • NR_148667.2:n.5885T>C
Protein change:
M1009T
Links:
dbSNP: rs1559101839
NCBI 1000 Genomes Browser:
rs1559101839
Molecular consequence:
  • NM_001165963.4:c.5468T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.5468T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.5468T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.5435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.5435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.5435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.5435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.5432T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.5432T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.5384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.5381T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.3026T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.5435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5885T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001428932Institute of Human Genetics, University of Leipzig Medical Centercriteria provided, single submitter
Pathogenic
(Nov 3, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001428932.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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