NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr) AND Severe myoclonic epilepsy in infancy

Clinical significance:Uncertain significance (Last evaluated: Apr 4, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001004769.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)]

NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)

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.5066T>C (p.Met1689Thr)
HGVS:
  • NC_000002.12:g.165992209A>G
  • NG_011906.1:g.86431T>C
  • NM_001165963.4:c.5066T>CMANE SELECT
  • NM_001165964.3:c.4982T>C
  • NM_001202435.3:c.5066T>C
  • NM_001353948.2:c.5066T>C
  • NM_001353949.2:c.5033T>C
  • NM_001353950.2:c.5033T>C
  • NM_001353951.2:c.5033T>C
  • NM_001353952.2:c.5033T>C
  • NM_001353954.2:c.5030T>C
  • NM_001353955.2:c.5030T>C
  • NM_001353957.2:c.4982T>C
  • NM_001353958.2:c.4982T>C
  • NM_001353960.2:c.4979T>C
  • NM_001353961.2:c.2624T>C
  • NM_006920.6:c.5033T>C
  • NP_001159435.1:p.Met1689Thr
  • NP_001159436.1:p.Met1661Thr
  • NP_001189364.1:p.Met1689Thr
  • NP_001340877.1:p.Met1689Thr
  • NP_001340878.1:p.Met1678Thr
  • NP_001340879.1:p.Met1678Thr
  • NP_001340880.1:p.Met1678Thr
  • NP_001340881.1:p.Met1678Thr
  • NP_001340883.1:p.Met1677Thr
  • NP_001340884.1:p.Met1677Thr
  • NP_001340886.1:p.Met1661Thr
  • NP_001340887.1:p.Met1661Thr
  • NP_001340889.1:p.Met1660Thr
  • NP_001340890.1:p.Met875Thr
  • NP_008851.3:p.Met1678Thr
  • LRG_8:g.86431T>C
  • NC_000002.11:g.166848719A>G
  • NM_001165963.1:c.5066T>C
  • NM_001165963.2:c.5066T>C
  • NR_148667.2:n.5483T>C
Protein change:
M1660T
Links:
Molecular consequence:
  • NM_001165963.4:c.5066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.4982T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.5066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.5066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.4982T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.4982T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.4979T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.2624T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5483T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001164249Génétique des Maladies du Développement, Hospices Civils de Lyoncriteria provided, single submitter
Uncertain significance
(Apr 4, 2018)
paternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot 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 Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001164249.1

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

Last Updated: Oct 7, 2021

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