NM_006920.4(SCN1A):c.603-91G>A AND carbamazepine response - Dosage

Clinical significance:drug response (Last evaluated: Nov 23, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211149.1

Allele description [Variation Report for NM_006920.4(SCN1A):c.603-91G>A]

NM_006920.4(SCN1A):c.603-91G>A

Gene:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_006920.4(SCN1A):c.603-91G>A
HGVS:
  • NC_000002.12:g.166053034C>T
  • NG_011906.1:g.25606G>A
  • NM_006920.4:c.603-91G>A
  • LRG_8t1:c.603-91G>A
  • LRG_8:g.25606G>A
  • NC_000002.11:g.166909544C>T
Nucleotide change:
IVS5N+5G-A (rs3812718)
Links:
PharmGKB Clinical Annotation: 613978931; PharmGKB Clinical Annotation: 613978937; OMIM: 182389.0016; dbSNP: rs3812718
NCBI 1000 Genomes Browser:
rs3812718
Molecular consequence:
  • NM_006920.4:c.603-91G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
carbamazepine response - Dosage
Identifiers:
MedGen: CN236494

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268302PharmGKBreviewed by expert panel
drug response
(Nov 23, 2017)
Condition: carbamazepine response - Dosage
Drug reported used for: Epilepsy
germlinecuration

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268302

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.

Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, Thom M, Sen A, Shorvon SD, Sander JW, Wood NW, Goldstein DB.

Proc Natl Acad Sci U S A. 2005 Apr 12;102(15):5507-12. Epub 2005 Apr 1.

PubMed [citation]
PMID:
15805193
PMCID:
PMC556232

SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs.

Thompson CH, Kahlig KM, George AL Jr.

Epilepsia. 2011 May;52(5):1000-9. doi: 10.1111/j.1528-1167.2011.03040.x. Epub 2011 Mar 31.

PubMed [citation]
PMID:
21453355
PMCID:
PMC3093448
See all PubMed Citations (8)

Details of each submission

From PharmGKB, SCV000268302.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (8)

Description

PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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