NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe) AND Severe myoclonic epilepsy in infancy

Clinical significance:Likely pathogenic (Last evaluated: Apr 25, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001375625.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)]

NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)

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.5308A>T (p.Ile1770Phe)
HGVS:
  • NC_000002.12:g.165991967T>A
  • NG_011906.1:g.86673A>T
  • NM_001165963.4:c.5308A>TMANE SELECT
  • NM_001165964.3:c.5224A>T
  • NM_001202435.3:c.5308A>T
  • NM_001353948.2:c.5308A>T
  • NM_001353949.2:c.5275A>T
  • NM_001353950.2:c.5275A>T
  • NM_001353951.2:c.5275A>T
  • NM_001353952.2:c.5275A>T
  • NM_001353954.2:c.5272A>T
  • NM_001353955.2:c.5272A>T
  • NM_001353957.2:c.5224A>T
  • NM_001353958.2:c.5224A>T
  • NM_001353960.2:c.5221A>T
  • NM_001353961.2:c.2866A>T
  • NM_006920.6:c.5275A>T
  • NP_001159435.1:p.Ile1770Phe
  • NP_001159436.1:p.Ile1742Phe
  • NP_001189364.1:p.Ile1770Phe
  • NP_001340877.1:p.Ile1770Phe
  • NP_001340878.1:p.Ile1759Phe
  • NP_001340879.1:p.Ile1759Phe
  • NP_001340880.1:p.Ile1759Phe
  • NP_001340881.1:p.Ile1759Phe
  • NP_001340883.1:p.Ile1758Phe
  • NP_001340884.1:p.Ile1758Phe
  • NP_001340886.1:p.Ile1742Phe
  • NP_001340887.1:p.Ile1742Phe
  • NP_001340889.1:p.Ile1741Phe
  • NP_001340890.1:p.Ile956Phe
  • NP_008851.3:p.Ile1759Phe
  • LRG_8:g.86673A>T
  • NC_000002.11:g.166848477T>A
  • NR_148667.2:n.5725A>T
Protein change:
I1741F
Links:
Molecular consequence:
  • NM_001165963.4:c.5308A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.5224A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.5308A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.5308A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.5275A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.5275A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.5275A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.5275A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.5272A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.5272A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.5224A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.5224A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.5221A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.2866A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.5275A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5725A>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
SCV001572547Centre for Inherited Metabolic Diseases, Karolinska University Hospitalcriteria provided, single submitter
Likely pathogenic
(Apr 25, 2021)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1noclinical 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 Centre for Inherited Metabolic Diseases, Karolinska University Hospital, SCV001572547.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not provideddiscovery1not providednot providednot provided

Last Updated: Oct 7, 2021

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