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NM_017882.3(CLN6):c.514T>C (p.Tyr172His)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 13, 2021)
Last evaluated:
Apr 13, 2021
Accession:
VCV001064454.1
Variation ID:
1064454
Description:
single nucleotide variant
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NM_017882.3(CLN6):c.514T>C (p.Tyr172His)

Allele ID
1052644
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 68211291 (GRCh38) GRCh38 UCSC
15: 68503629 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.68211291A>G
NC_000015.9:g.68503629A>G
NM_017882.3:c.514T>C MANE Select NP_060352.1:p.Tyr172His missense
... more HGVS
Protein change
Y172H
Other names
-
Canonical SPDI
NC_000015.10:68211290:A: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 Apr 13, 2021 RCV001374417.1
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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
(Apr 13, 2021)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 6
(Autosomal recessive inheritance)
Allele origin: germline
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
Accession: SCV001571376.1
Submitted: (Apr 13, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jul 29, 2021