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NM_017882.3(CLN6):c.552C>T (p.Pro184=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 3, 2018
Accession:
VCV000759132.2
Variation ID:
759132
Description:
single nucleotide variant
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NM_017882.3(CLN6):c.552C>T (p.Pro184=)

Allele ID
770302
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 68209750 (GRCh38) GRCh38 UCSC
15: 68502088 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.68209750G>A
NC_000015.9:g.68502088G>A
NM_017882.3:c.552C>T MANE Select NP_060352.1:p.Pro184= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:68209749:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1595817219
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 3, 2018 RCV000936913.1
Likely benign 1 criteria provided, single submitter Apr 26, 2018 RCV001482836.1
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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 benign
(May 03, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001082687.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Apr 26, 2018)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis
Allele origin: germline
Invitae
Accession: SCV001687215.1
Submitted: (Jan 07, 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.

Text-mined citations for rs1595817219...

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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 Jun 14, 2021