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NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) AND Congenital myasthenic syndrome

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:
RCV000235032.10

Allele description [Variation Report for NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)]

NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)

Genes:
GH-LCR:growth hormone locus control region [Gene]
SCN4A:sodium voltage-gated channel alpha subunit 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)
HGVS:
  • NC_000017.11:g.63941922G>A
  • NG_011699.1:g.35997C>T
  • NG_042788.1:g.24830G>A
  • NM_000334.4:c.4360C>TMANE SELECT
  • NP_000325.4:p.Arg1454Trp
  • NP_000325.4:p.Arg1454Trp
  • NC_000017.10:g.62019282G>A
  • P35499:p.Arg1454Trp
Protein change:
R1454W; ARG1454TRP
Links:
UniProtKB: P35499#VAR_075436; OMIM: 603967.0041; dbSNP: rs879253789
NCBI 1000 Genomes Browser:
rs879253789
Molecular consequence:
  • NM_000334.4:c.4360C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Name:
Congenital myasthenic syndrome (CMS)
Identifiers:
MONDO: MONDO:0018940; MeSH: D020294; MedGen: C0751882; OMIM: PS601462

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000292416GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, Eymard B, Morales RJ, Echenne B, King L, Hanna MG, Männikkö R, Chahine M, Nicole S, Bendahhou S.

Neurology. 2016 Jan 12;86(2):161-9. doi: 10.1212/WNL.0000000000002264. Epub 2015 Dec 11.

PubMed [citation]
PMID:
26659129
PMCID:
PMC4731685

Details of each submission

From GeneReviews, SCV000292416.2

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

Last Updated: Oct 26, 2024