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.1607C>T (p.Pro536Leu)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Apr 25, 2018
Accession:
VCV000449520.2
Variation ID:
449520
Description:
single nucleotide variant
Help

NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)

Allele ID
445131
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23355005 (GRCh38) GRCh38 UCSC
13: 23929144 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23929144G>A
NC_000013.11:g.23355005G>A
NG_012342.1:g.83698C>T
... more HGVS
Protein change
P536L, P389L
Other names
-
Canonical SPDI
NC_000013.11:23355004:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA387547599
dbSNP: rs1440541889
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jul 12, 2017 RCV000523535.1
Uncertain significance 1 criteria provided, single submitter Apr 25, 2018 RCV000674260.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000799567.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jul 12, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000617747.1
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The P536L variant in the SACS gene has been reported previously in association with autosomal recessive spastic ataxia of Charlevoix-Saguenay (Anheim et al., 2008). The … (more)

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
[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]. Anheim M Revue neurologique 2008 PMID: 18439928

Text-mined citations for rs1440541889...

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