NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val) AND Myotonia congenita, atypical, acetazolamide-responsive

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1994
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000006269.7

Allele description [Variation Report for NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val)]

NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val)

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.3478A>G (p.Ile1160Val)

HGVS:

NC_000017.11:g.63945602T>C
NG_011699.1:g.32317A>G
NG_042788.1:g.28510T>C
NM_000334.4:c.3478A>GMANE SELECT
NP_000325.4:p.Ile1160Val
NC_000017.10:g.62022962T>C
P35499:p.Ile1160Val

Protein change:

I1160V; ILE1160VAL

Links:

UniProtKB: P35499#VAR_017793; OMIM: 603967.0010; dbSNP: rs121908549

NCBI 1000 Genomes Browser:

rs121908549

Molecular consequence:

NM_000334.4:c.3478A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Myotonia congenita, atypical, acetazolamide-responsive
Identifiers:: MedGen: C4016869

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026451	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1994)	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

SCV000026451

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1994)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

Ptáĉek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al.

Neurology. 1994 Aug;44(8):1500-3.

PubMed [citation]

PMID:: 8058156

Details of each submission

From OMIM, SCV000026451.4

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

Description

In a patient with acetazolamide-responsive myotonia congenita without periodic paralysis (see 608390), Ptacek et al. (1994) identified a heterozygous c.3555A-G transition in the SCN4A gene, predicted to result in an ile1160-to-val (I1160V) substitution. This isoleucine is a highly conserved residue, cosegregated with the disease phenotype in one studied kindred, and was not present in samples from 100 unrelated unaffected individuals.

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

Last Updated: Sep 29, 2024

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