NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) AND Febrile seizures, familial, 3b

Clinical significance:Uncertain significance (Last evaluated: Sep 1, 2009)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000006740.5

Allele description [Variation Report for NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val)]

NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val)

Gene:
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val)
HGVS:
  • NC_000002.12:g.166311573T>C
  • NG_012798.1:g.69415A>G
  • NM_001365536.1:c.184A>GMANE SELECT
  • NM_002977.3:c.184A>G
  • NP_001352465.1:p.Ile62Val
  • NP_002968.1:p.Ile62Val
  • LRG_369t1:c.184A>G
  • LRG_369:g.69415A>G
  • LRG_369p1:p.Ile62Val
  • NC_000002.11:g.167168083T>C
  • Q15858:p.Ile62Val
Protein change:
I62V; ILE62VAL
Links:
UniProtKB: Q15858#VAR_064596; OMIM: 603415.0020; dbSNP: rs121908920
NCBI 1000 Genomes Browser:
rs121908920
Molecular consequence:
  • NM_001365536.1:c.184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002977.3:c.184A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Febrile seizures, familial, 3b (FEB3B)
Identifiers:
MedGen: C3151229

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026932OMIMno assertion criteria providedUncertain significance
(Sep 1, 2009)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

No association between SCN9A and monogenic human epilepsy disorders.

Fasham J, Leslie JS, Harrison JW, Deline J, Williams KB, Kuhl A, Scott Schwoerer J, Cross HE, Crosby AH, Baple EL.

PLoS Genet. 2020 Nov;16(11):e1009161. doi: 10.1371/journal.pgen.1009161.

PubMed [citation]
PMID:
33216760
PMCID:
PMC7717534

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Singh NA, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF.

PLoS Genet. 2009 Sep;5(9):e1000649. doi: 10.1371/journal.pgen.1000649. Epub 2009 Sep 18.

PubMed [citation]
PMID:
19763161
PMCID:
PMC2730533

Details of each submission

From OMIM, SCV000026932.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant, previously titled FEBRILE SEIZURES, FAMILIAL, 3B, has been reclassified because its pathogenicity has not been confirmed.

From a panel of 92 unrelated patients with childhood seizures occurring in the setting of febrile seizures (see 613863), Singh et al. (2009) identified a Hispanic patient who was heterozygous for a 184A-G transition in the SCN9A gene, resulting in an ile62-to-val (I62V) substitution at a highly conserved residue in the N-terminal region. The mutation was not identified in 276 ethnically matched control chromosomes. The authors did not find a a mutation in the SCNA1 gene in this patient.

Fasham et al. (2020) noted the lack of segregation studies for this variant in the report by Singh et al. (2009).

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

Last Updated: Oct 8, 2021

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