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NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) AND Severe myoclonic epilepsy in infancy

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000059403.3

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)]

NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)

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.3620T>C (p.Leu1207Pro)
HGVS:
  • NC_000002.12:g.166013829A>G
  • NG_011906.1:g.64811T>C
  • NM_001165963.4:c.3620T>CMANE SELECT
  • NM_001165964.3:c.3536T>C
  • NM_001202435.3:c.3620T>C
  • NM_001353948.2:c.3620T>C
  • NM_001353949.2:c.3587T>C
  • NM_001353950.2:c.3587T>C
  • NM_001353951.2:c.3587T>C
  • NM_001353952.2:c.3587T>C
  • NM_001353954.2:c.3584T>C
  • NM_001353955.2:c.3584T>C
  • NM_001353957.2:c.3536T>C
  • NM_001353958.2:c.3536T>C
  • NM_001353960.2:c.3533T>C
  • NM_001353961.2:c.1178T>C
  • NM_006920.6:c.3587T>C
  • NP_001159435.1:p.Leu1207Pro
  • NP_001159436.1:p.Leu1179Pro
  • NP_001189364.1:p.Leu1207Pro
  • NP_001340877.1:p.Leu1207Pro
  • NP_001340878.1:p.Leu1196Pro
  • NP_001340879.1:p.Leu1196Pro
  • NP_001340880.1:p.Leu1196Pro
  • NP_001340881.1:p.Leu1196Pro
  • NP_001340883.1:p.Leu1195Pro
  • NP_001340884.1:p.Leu1195Pro
  • NP_001340886.1:p.Leu1179Pro
  • NP_001340887.1:p.Leu1179Pro
  • NP_001340889.1:p.Leu1178Pro
  • NP_001340890.1:p.Leu393Pro
  • NP_008851.3:p.Leu1196Pro
  • LRG_8t1:c.3587T>C
  • LRG_8:g.64811T>C
  • NC_000002.11:g.166870339A>G
  • NM_001165963.1:c.3620T>C
  • NM_006920.4:c.3587T>C
  • NR_148667.2:n.3973T>C
Protein change:
L1178P
Links:
UniProtKB/Swiss-Prot: VAR_043360; dbSNP: rs121917963
NCBI 1000 Genomes Browser:
rs121917963
Molecular consequence:
  • NM_001165963.4:c.3620T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.3536T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.3620T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.3620T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.3587T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.3587T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.3587T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.3587T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.3584T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.3584T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.3536T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.3536T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.3533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.1178T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.3587T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.3973T>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); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090927UniProtKB/Swiss-Prot
no classification provided
not providedunknownnot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT.

Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489.

PubMed [citation]
PMID:
18413471

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090927.1

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

Last Updated: Oct 20, 2024