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NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Mar 14, 2019)
Last evaluated:
May 15, 2018
Accession:
VCV000217775.2
Variation ID:
217775
Description:
single nucleotide variant
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NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)

Allele ID
214427
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q27.1
Genomic location
3: 184353341 (GRCh38) GRCh38 UCSC
3: 184071129 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P51788:p.Arg646Gln
NC_000003.11:g.184071129C>T
NC_000003.12:g.184353341C>T
... more HGVS
Protein change
R646Q, R602Q, R629Q
Other names
-
Canonical SPDI
NC_000003.12:184353340:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00056
1000 Genomes Project 0.00100
Trans-Omics for Precision Medicine (TOPMed) 0.00147
The Genome Aggregation Database (gnomAD) 0.00150
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00185
Links
ClinGen: CA347612
UniProtKB: P51788#VAR_057892
dbSNP: rs115961753
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 15, 2018 RCV000878619.1
Uncertain significance 1 no assertion criteria provided Sep 9, 2015 RCV000201809.1
Uncertain significance 1 no assertion criteria provided Aug 4, 2017 RCV000678790.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CLCN2 - - GRCh38
GRCh37
110 149

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 15, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001021553.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Sep 09, 2015)
no assertion criteria provided
Method: literature only
Leukoencephalopathy with ataxia
Allele origin: germline
GeneReviews
Accession: SCV000256568.1
Submitted: (Nov 09, 2015)
Evidence details
Publications
PubMed (1)
Other databases
http://www.ncbi.nlm.nih.gov/book…
Uncertain significance
(Aug 04, 2017)
no assertion criteria provided
Method: clinical testing
seizures
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000804971.1
Submitted: (Jul 17, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
<i>CLCN2</i>-Related Leukoencephalopathy Min R - 2021 PMID: 26539602
Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics. Paul J Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2007 PMID: 17762171
http://www.ncbi.nlm.nih.gov/books/NBK326661/ - - - -

Text-mined citations for rs115961753...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 18, 2021