Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro)

Help
Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 5, 2015)
Last evaluated:
Sep 23, 2013
Accession:
VCV000180208.1
Variation ID:
180208
Description:
single nucleotide variant
Help

NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro)

Allele ID
178390
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23340287 (GRCh38) GRCh38 UCSC
13: 23914426 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23914426A>G
NC_000013.11:g.23340287A>G
NG_012342.1:g.98416T>C
... more HGVS
Protein change
S1197P, S1050P
Other names
-
Canonical SPDI
NC_000013.11:23340286:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA273726
dbSNP: rs727503785
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Sep 23, 2013 RCV000157061.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 23, 2013)
no assertion criteria provided
Method: clinical testing
Spastic ataxia Charlevoix-Saguenay type
Allele origin: biparental
Mendelics
Accession: SCV000199331.2
Submitted: (Jan 05, 2015)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
ARSACS Vermeer S - 2020 PMID: 20301432

Text-mined citations for rs727503785...

Help
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