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NM_017882.3(CLN6):c.486+1G>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 21, 2020
Accession:
VCV001066129.1
Variation ID:
1066129
Description:
single nucleotide variant
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NM_017882.3(CLN6):c.486+1G>C

Allele ID
1056252
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 68211674 (GRCh38) GRCh38 UCSC
15: 68504012 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_832:g.50538G>C
LRG_832t1:c.486+1G>C
NC_000015.10:g.68211674C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:68211673:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jul 21, 2020 RCV001377046.1
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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
443 458

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 21, 2020)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis
Allele origin: germline
Invitae
Accession: SCV001574272.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects a donor splice site in intron 4 of the CLN6 gene. It is expected to disrupt RNA splicing and likely results … (more)

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
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. Berkovic SF Brain : a journal of neurology 2019 PMID: 30561534
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. Cannelli N Biochemical and biophysical research communications 2009 PMID: 19135028
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. Teixeira CA Human mutation 2003 PMID: 12673792

Record last updated Oct 08, 2021