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NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 17, 2021)
Last evaluated:
Mar 5, 2021
Accession:
VCV000556270.3
Variation ID:
556270
Description:
single nucleotide variant
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NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)

Allele ID
547227
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23337521 (GRCh38) GRCh38 UCSC
13: 23911660 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23911660G>A
NC_000013.11:g.23337521G>A
NM_014363.6:c.6355C>T MANE Select NP_055178.3:p.Arg2119Ter nonsense
... more HGVS
Protein change
R2119*, R1972*
Other names
-
Canonical SPDI
NC_000013.11:23337520:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs766711286
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Mar 5, 2021 RCV000672257.3
Pathogenic 1 criteria provided, single submitter Aug 20, 2020 RCV001387162.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Pathogenic
(Jan 23, 2018)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000797348.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (2)
Pathogenic
(Dec 30, 2017)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Department of Genetics,Sultan Qaboos University Hospital, Oman
Accession: SCV000891693.1
Submitted: (Oct 25, 2018)
Evidence details
Pathogenic
(Mar 05, 2021)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001519398.1
Submitted: (Mar 17, 2021)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: SACS c.6355C>T (p.Arg2119X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Aug 20, 2020)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001587721.1
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.Arg2119*). 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
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. Hamza W BMC medical genetics 2015 PMID: 26068213
Sacsin-related ataxia with neither retinal hypermyelination nor spasticity. Hara K Movement disorders : official journal of the Movement Disorder Society 2007 PMID: 17516465

Text-mined citations for rs766711286...

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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