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NM_004366.6(CLCN2):c.1397G>A (p.Gly466Glu) 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:
RCV000201834.10

Allele description [Variation Report for NM_004366.6(CLCN2):c.1397G>A (p.Gly466Glu)]

NM_004366.6(CLCN2):c.1397G>A (p.Gly466Glu)

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.1397G>A (p.Gly466Glu)
HGVS:
  • NC_000003.12:g.184354658C>T
  • NG_016422.1:g.11946G>A
  • NM_001171087.3:c.1397-51G>A
  • NM_001171088.3:c.1265G>A
  • NM_001171089.3:c.1397G>A
  • NM_004366.6:c.1397G>AMANE SELECT
  • NP_001164559.1:p.Gly422Glu
  • NP_001164560.1:p.Gly466Glu
  • NP_004357.3:p.Gly466Glu
  • NC_000003.11:g.184072446C>T
  • NM_004366.5:c.1397G>A
Protein change:
G422E
Links:
dbSNP: rs863225254
NCBI 1000 Genomes Browser:
rs863225254
Molecular consequence:
  • NM_001171087.3:c.1397-51G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171088.3:c.1265G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171089.3:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004366.6:c.1397G>A - 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
SCV000256587GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000256587.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024