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NM_014363.6(SACS):c.8108G>A (p.Arg2703His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 20, 2021)
Last evaluated:
Jan 5, 2021
Accession:
VCV000553081.4
Variation ID:
553081
Description:
single nucleotide variant
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NM_014363.6(SACS):c.8108G>A (p.Arg2703His)

Allele ID
547069
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23335768 (GRCh38) GRCh38 UCSC
13: 23909907 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23909907C>T
NC_000013.11:g.23335768C>T
NG_012342.1:g.102935G>A
... more HGVS
Protein change
R2703H, R2556H
Other names
-
Canonical SPDI
NC_000013.11:23335767:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs750181262
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 Aug 2, 2017 RCV000668456.1
Uncertain significance 1 criteria provided, single submitter Jan 5, 2021 RCV001576889.3
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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
Uncertain significance
(Aug 02, 2017)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000793063.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jan 05, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001804162.1
Submitted: (Aug 20, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious … (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

Text-mined citations for rs750181262...

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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 Sep 29, 2021