Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_017882.3(CLN6):c.890del (p.Pro297fs)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 7, 2020)
Last evaluated:
Jul 14, 2020
Accession:
VCV000068098.2
Variation ID:
68098
Description:
1bp deletion
Help

NM_017882.3(CLN6):c.890del (p.Pro297fs)

Allele ID
78989
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 68208186 (GRCh38) GRCh38 UCSC
15: 68500524 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.68208188del
NC_000015.9:g.68500526del
NM_017882.3:c.890del MANE Select NP_060352.1:p.Pro297fs frameshift
... more HGVS
Protein change
P297fs
Other names
Pro297LeufsX53
Canonical SPDI
NC_000015.10:68208185:GGG:GG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA284821
dbSNP: rs154774639
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Jul 14, 2020 RCV000058914.2
Likely pathogenic 1 criteria provided, single submitter Sep 28, 2017 RCV000669748.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CLN6 - - GRCh38
GRCh37
446 461

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 28, 2017)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 6
Allele origin: unknown
Counsyl
Accession: SCV000794529.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Jul 14, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center
Accession: SCV001430898.1
Submitted: (Aug 07, 2020)
Evidence details
Comment:
PVS1, PM2, PM3
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: germline
SNPedia
Accession: SCV000090435.1
Submitted: (Jun 29, 2011)
Comment:
Kufs Type A disease
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Arsov T American journal of human genetics 2011 PMID: 21549341

Text-mined citations for rs154774639...

Help
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 Jul 29, 2021