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NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jan 29, 2018
Accession:
VCV000556320.1
Variation ID:
556320
Description:
single nucleotide variant
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NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)

Allele ID
547731
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 68208239 (GRCh38) GRCh38 UCSC
15: 68500577 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_832:g.53973G>A
LRG_832t1:c.837G>A LRG_832p1:p.Trp279Ter
NC_000015.10:g.68208239C>T
... more HGVS
Protein change
W279*
Other names
-
Canonical SPDI
NC_000015.10:68208238:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
Links
dbSNP: rs1555438212
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 29, 2018 RCV000672314.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CLN6 - - GRCh38
GRCh37
447 462

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 29, 2018)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 6
Allele origin: unknown
Counsyl
Accession: SCV000797411.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

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
Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. Heine C Molecular membrane biology 2007 PMID: 17453415

Text-mined citations for rs1555438212...

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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 Dec 04, 2021