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NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys) AND Leukoencephalopathy with mild cerebellar ataxia and white matter edema

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:
RCV000201838.10

Allele description [Variation Report for NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)]

NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)

Gene:
CLCN2:chloride voltage-gated channel 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.1
Genomic location:
Preferred name:
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)
HGVS:
  • NC_000003.12:g.184353348G>A
  • NG_016422.1:g.13256C>T
  • NM_001171087.3:c.1879C>T
  • NM_001171088.3:c.1798C>T
  • NM_001171089.3:c.1930C>T
  • NM_004366.6:c.1930C>TMANE SELECT
  • NP_001164558.1:p.Arg627Cys
  • NP_001164559.1:p.Arg600Cys
  • NP_001164560.1:p.Arg644Cys
  • NP_004357.3:p.Arg644Cys
  • NP_004357.3:p.Arg644Cys
  • NC_000003.11:g.184071136G>A
  • NM_004366.4:c.1930C>T
  • NM_004366.5:c.1930C>T
  • P51788:p.Arg644Cys
Protein change:
R600C
Links:
UniProtKB: P51788#VAR_057891; dbSNP: rs148545588
NCBI 1000 Genomes Browser:
rs148545588
Molecular consequence:
  • NM_001171087.3:c.1879C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171088.3:c.1798C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171089.3:c.1930C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004366.6:c.1930C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leukoencephalopathy with mild cerebellar ataxia and white matter edema (LKPAT)
Synonyms:
Leukoencephalopathy with ataxia; Leukoencephalopathy with white matter edema; Brain white matter edema
Identifiers:
MONDO: MONDO:0014292; MedGen: C4554120; Orphanet: 363540; OMIM: 615651

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256567GeneReviews
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

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

Saint-Martin C, Gauvain G, Teodorescu G, Gourfinkel-An I, Fedirko E, Weber YG, Maljevic S, Ernst JP, Garcia-Olivares J, Fahlke C, Nabbout R, LeGuern E, Lerche H, Poncer JC, Depienne C.

Hum Mutat. 2009 Mar;30(3):397-405. doi: 10.1002/humu.20876.

PubMed [citation]
PMID:
19191339

Details of each submission

From GeneReviews, SCV000256567.2

#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: Mar 16, 2025