NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) AND Severe myoclonic epilepsy in infancy

Clinical significance:Pathogenic (Last evaluated: Jan 6, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000059549.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)]

NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)

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.5726C>T (p.Thr1909Ile)
HGVS:
  • NC_000002.12:g.165991549G>A
  • NG_011906.1:g.87091C>T
  • NM_001165963.4:c.5726C>TMANE SELECT
  • NM_001165963.4:c.5726C>T
  • NM_001165964.3:c.5642C>T
  • NM_001202435.3:c.5726C>T
  • NM_001353948.2:c.5726C>T
  • NM_001353949.2:c.5693C>T
  • NM_001353950.2:c.5693C>T
  • NM_001353951.2:c.5693C>T
  • NM_001353952.2:c.5693C>T
  • NM_001353954.2:c.5690C>T
  • NM_001353955.2:c.5690C>T
  • NM_001353957.2:c.5642C>T
  • NM_001353958.2:c.5642C>T
  • NM_001353960.2:c.5639C>T
  • NM_001353961.2:c.3284C>T
  • NM_006920.6:c.5693C>T
  • NP_001159435.1:p.Thr1909Ile
  • NP_001159436.1:p.Thr1881Ile
  • NP_001189364.1:p.Thr1909Ile
  • NP_001340877.1:p.Thr1909Ile
  • NP_001340878.1:p.Thr1898Ile
  • NP_001340879.1:p.Thr1898Ile
  • NP_001340880.1:p.Thr1898Ile
  • NP_001340881.1:p.Thr1898Ile
  • NP_001340883.1:p.Thr1897Ile
  • NP_001340884.1:p.Thr1897Ile
  • NP_001340886.1:p.Thr1881Ile
  • NP_001340887.1:p.Thr1881Ile
  • NP_001340889.1:p.Thr1880Ile
  • NP_001340890.1:p.Thr1095Ile
  • NP_008851.3:p.Thr1898Ile
  • LRG_8t1:c.5693C>T
  • LRG_8:g.87091C>T
  • NC_000002.11:g.166848059G>A
  • NM_001165963.1:c.5726C>T
  • NM_006920.4:c.5693C>T
  • NR_148667.2:n.6143C>T
Protein change:
T1095I
Links:
UniProtKB/Swiss-Prot: VAR_029729; dbSNP: rs121918793
NCBI 1000 Genomes Browser:
rs121918793
Molecular consequence:
  • NM_001165963.4:c.5726C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.5642C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.5726C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.5726C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.5693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.5693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.5693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.5693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.5690C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.5690C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.5642C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.5642C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.5639C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.3284C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.5693C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.6143C>T - 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
SCV000091081UniProtKB/Swiss-Protno assertion providednot providednot providednot provided

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

SCV000586771Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Pariscriteria provided, single submitter
Pathogenic
(Jan 6, 2017)
de novoclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K.

Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23.

PubMed [citation]
PMID:
12083760

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
See all PubMed Citations (3)

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091081.1

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

From Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris, SCV000586771.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

Intellectual disability; severe and pharmacoresistant epilepsy (starting with febrile convulsions); pyramidal syndrome; tremor and myoclonus; dysmorphism; scoliosis

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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