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_014363.6(SACS):c.8793dup (p.Arg2932fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 15, 2020
Accession:
VCV000959991.3
Variation ID:
959991
Description:
1bp duplication
Help

NM_014363.6(SACS):c.8793dup (p.Arg2932fs)

Allele ID
948279
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23335082-23335083 (GRCh38) GRCh38 UCSC
13: 23909221-23909222 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23909228dup
NC_000013.11:g.23335089dup
NM_014363.6:c.8793dup MANE Select NP_055178.3:p.Arg2932fs frameshift
... more HGVS
Protein change
R2785fs, R2932fs
Other names
-
Canonical SPDI
NC_000013.11:23335082:TTTTTTT:TTTTTTTT
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
Pathogenic 1 criteria provided, single submitter Sep 15, 2020 RCV001233437.2
Pathogenic 1 criteria provided, single submitter Jun 10, 2020 RCV001288377.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 10, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475443.1
Submitted: (Dec 30, 2020)
Evidence details
Comment:
The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in … (more)
Pathogenic
(Sep 15, 2020)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001406030.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change results in a premature translational stop signal in the SACS gene (p.Arg2932Thrfs*7). While this is not anticipated to result in nonsense mediated … (more)

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
Title Author Journal Year Link
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Girard M Proceedings of the National Academy of Sciences of the United States of America 2012 PMID: 22307627
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. Narayanan V Journal of child neurology 2011 PMID: 21745802
Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. Guernsey DL Journal of the neurological sciences 2010 PMID: 19892370
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. Mercier J Genetic testing 2001 PMID: 11788093
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Engert JC Nature genetics 2000 PMID: 10655055

Record last updated May 10, 2021