NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) AND Congenital myotonia, autosomal recessive form

Clinical significance:Pathogenic (Last evaluated: Oct 7, 2013)

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:
RCV000019088.26

Allele description [Variation Report for NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)]

NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)

Gene:
CLCN1:chloride voltage-gated channel 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)
HGVS:
  • NC_000007.14:g.143339295G>A
  • NG_009815.1:g.28170G>A
  • NM_000083.3:c.1444G>A
  • NP_000074.3:p.Gly482Arg
  • NC_000007.13:g.143036388G>A
  • NM_000083.2:c.1444G>A
  • NR_046453.1:n.1384G>A
Protein change:
G482R; GLY482ARG
Links:
OMIM: 118425.0005; dbSNP: rs746125212
NCBI 1000 Genomes Browser:
rs746125212
Molecular consequence:
  • NM_000083.3:c.1444G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital myotonia, autosomal recessive form
Synonyms:
Becker Generalized Myotonia
Identifiers:
MedGen: C0751360; Orphanet: 614; OMIM: 255700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039376OMIMno assertion criteria providedPathogenic
(Oct 7, 2013)
germlineliterature only

Koch, M. C., Meyer-Kleine, C., Otto, M., Ricker, K., Lorenz, C., Steinmeyer, K., Jentsch, T. J. Mutations in the CLCN1 gene leading to myotonia congenita Thomsen and generalized myotonia Becker. (Abstract) Am. J. Hum. Genet. 55 (suppl.): A226, 1994.

Summary from all submissions

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

Details of each submission

From OMIM, SCV000039376.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In affected members of a family with Becker myotonia congenita (255700), Koch et al. (1994) identified a mutation in the CLCN1 gene, resulting in a gly482-to-arg (G482R) substitution. Interestingly, this mutation producing a recessive phenotype is only 2 codons removed from a pro480-to-leu (P480L; 118425.0006) mutation which results in the dominant Thomsen type of myotonia congenita.

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

Last Updated: Aug 29, 2019

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