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NM_017882.3(CLN6):c.84-1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Mar 2, 2017
Accession:
VCV000424086.2
Variation ID:
424086
Description:
single nucleotide variant
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NM_017882.3(CLN6):c.84-1G>A

Allele ID
409337
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 68218651 (GRCh38) GRCh38 UCSC
15: 68510989 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.68218651C>T
NC_000015.9:g.68510989C>T
NM_017882.3:c.84-1G>A MANE Select splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:68218650:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs1064796787
ClinGen: CA16620001
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 Mar 2, 2017 RCV000484435.1
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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
(Mar 02, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000573864.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.84-1G>A variant in the CLN6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1064796787...

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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 Feb 27, 2021