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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292416	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292416

GeneReviews

no classification provided

not provided

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 18, 2024

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