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NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Oct 16, 2017
Accession:
VCV000554337.1
Variation ID:
554337
Description:
single nucleotide variant
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NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)

Allele ID
547130
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23330231 (GRCh38) GRCh38 UCSC
13: 23904370 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23904370T>C
NC_000013.11:g.23330231T>C
NG_012342.1:g.108472A>G
... more HGVS
Protein change
N4549D, N4402D
Other names
-
Canonical SPDI
NC_000013.11:23330230:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1178912631
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 16, 2017 RCV000669953.1
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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
(Oct 16, 2017)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000794756.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (3)

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
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Fogel BL Movement disorders : official journal of the Movement Disorder Society 2012 PMID: 22287014
Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Kozlov G The Journal of biological chemistry 2011 PMID: 21507954
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Richter AM Neurogenetics 2004 PMID: 15156359

Text-mined citations for rs1178912631...

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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