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NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 9, 2019
Accession:
VCV000553524.3
Variation ID:
553524
Description:
single nucleotide variant
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NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)

Allele ID
546812
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23331254 (GRCh38) GRCh38 UCSC
13: 23905393 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23905393G>A
NC_000013.11:g.23331254G>A
NG_012342.1:g.107449C>T
... more HGVS
Protein change
Q4208*, Q4061*
Other names
-
Canonical SPDI
NC_000013.11:23331253:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555249555
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 Aug 22, 2017 RCV000668994.1
Pathogenic 1 criteria provided, single submitter Nov 9, 2019 RCV001232544.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SACS - - GRCh38
GRCh37
1808 1900

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 22, 2017)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000793683.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Nov 09, 2019)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001405106.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change results in a premature translational stop signal in the SACS gene (p.Gln4208*). While this is not anticipated to result in nonsense mediated … (more)

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
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Pilliod J Annals of neurology 2015 PMID: 26288984
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Synofzik M Orphanet journal of rare diseases 2013 PMID: 23497566
Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X. Yamamoto Y Journal of neurology 2006 PMID: 16944349

Text-mined citations for rs1555249555...

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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 Oct 08, 2021