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NM_014363.6(SACS):c.1769_1770del (p.Val590fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 15, 2020
Accession:
VCV001075545.1
Variation ID:
1075545
Description:
2bp microsatellite
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NM_014363.6(SACS):c.1769_1770del (p.Val590fs)

Allele ID
1062816
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
13q12.12
Genomic location
13: 23354842-23354843 (GRCh38) GRCh38 UCSC
13: 23928981-23928982 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23928981CA[1]
NC_000013.11:g.23354842CA[1]
NM_014363.6:c.1769_1770del MANE Select NP_055178.3:p.Val590fs frameshift
... more HGVS
Protein change
V443fs, V590fs
Other names
-
Canonical SPDI
NC_000013.11:23354841:CACA:CA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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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 RCV001389169.1
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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
1807 1899

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 15, 2020)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001590436.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Val590Alafs*55) in the SACS gene. It is expected to result in an absent or disrupted protein … (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
Mutations in SACS cause atypical and late-onset forms of ARSACS. Baets J Neurology 2010 PMID: 20876471
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Vermeer S Neurogenetics 2008 PMID: 18465152

Record last updated May 13, 2021