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NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 8, 2021)
Last evaluated:
Jul 16, 2019
Accession:
VCV000038457.3
Variation ID:
38457
Description:
single nucleotide variant
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NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)

Allele ID
47015
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23332969 (GRCh38) GRCh38 UCSC
13: 23907108 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q9NZJ4:p.Arg3636Gln
NC_000013.10:g.23907108C>T
NC_000013.11:g.23332969C>T
... more HGVS
Protein change
R3636Q, R3489Q
Other names
-
Canonical SPDI
NC_000013.11:23332968:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA343112
UniProtKB: Q9NZJ4#VAR_064818
dbSNP: rs281865119
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Feb 22, 2018 RCV000032007.2
Uncertain significance 1 criteria provided, single submitter Jul 16, 2019 RCV001244900.1
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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
Uncertain significance
(Feb 22, 2018)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000798075.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Jul 16, 2019)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001418153.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with glutamine at codon 3636 of the SACS protein (p.Arg3636Gln). The arginine residue is moderately conserved and there is a … (more)
Pathogenic
(Dec 19, 2019)
no assertion criteria provided
Method: literature only
Charlevoix-Saguenay spastic ataxia
Allele origin: germline
GeneReviews
Accession: SCV000054716.2
Submitted: (Feb 08, 2021)
Evidence details
Publications
PubMed (3)
BookShelf: NBK1255

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
ARSACS Vermeer S - 2020 PMID: 20301432
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin. Duncan EJ Human molecular genetics 2017 PMID: 28535259
Mutations in SACS cause atypical and late-onset forms of ARSACS. Baets J Neurology 2010 PMID: 20876471
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Richter A American journal of human genetics 1999 PMID: 10053011

Text-mined citations for rs281865119...

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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 24, 2021