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.818T>C (p.Val273Ala)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 20, 2021)
Last evaluated:
Jun 24, 2020
Accession:
VCV001064769.1
Variation ID:
1064769
Description:
single nucleotide variant
Help

NM_017882.3(CLN6):c.818T>C (p.Val273Ala)

Allele ID
1053122
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 68208258 (GRCh38) GRCh38 UCSC
15: 68500596 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.68208258A>G
NC_000015.9:g.68500596A>G
NM_017882.3:c.818T>C MANE Select NP_060352.1:p.Val273Ala missense
... more HGVS
Protein change
V273A
Other names
-
Canonical SPDI
NC_000015.10:68208257:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 24, 2020 RCV001374905.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CLN6 - - GRCh38
GRCh37
443 458

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 24, 2020)
criteria provided, single submitter
Method: clinical testing
Neurodevelopmental disorder
Allele origin: germline
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
Accession: SCV001572192.1
Submitted: (Apr 20, 2021)
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
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 Apr 28, 2021