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NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Oct 23, 2018)
Last evaluated:
May 23, 2017
Accession:
VCV000374774.1
Variation ID:
374774
Description:
single nucleotide variant
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NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)

Allele ID
361660
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 68208178 (GRCh38) GRCh38 UCSC
15: 68500516 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.68208178A>G
NC_000015.9:g.68500516A>G
NM_017882.3:c.898T>C MANE Select NP_060352.1:p.Trp300Arg missense
... more HGVS
Protein change
W300R
Other names
-
Canonical SPDI
NC_000015.10:68208177:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA7630447
dbSNP: rs750937323
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 Sep 30, 2016 RCV000416280.1
Uncertain significance 1 criteria provided, single submitter May 23, 2017 RCV000675067.1
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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
Uncertain significance
(May 23, 2017)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 6
Allele origin: unknown
Counsyl
Accession: SCV000800542.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Sep 30, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000493684.6
Submitted: (Oct 23, 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
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. Teixeira CA Human mutation 2003 PMID: 12673792

Text-mined citations for rs750937323...

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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 Jul 29, 2021