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NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 25, 2019)
Last evaluated:
Jul 23, 2019
Accession:
VCV000371410.2
Variation ID:
371410
Description:
single nucleotide variant
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NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)

Allele ID
358151
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23333740 (GRCh38) GRCh38 UCSC
13: 23907879 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23907879A>C
NC_000013.11:g.23333740A>C
NG_012342.1:g.104963T>G
... more HGVS
Protein change
L3379*, L3232*
Other names
-
Canonical SPDI
NC_000013.11:23333739:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA16041608
dbSNP: rs1057517250
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 19, 2016 RCV000412241.1
Pathogenic 1 criteria provided, single submitter Jul 23, 2019 RCV000992769.1
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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
Likely pathogenic
(Sep 19, 2016)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000486982.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Jul 23, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001145303.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one … (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
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Vogel AP Journal of neurology 2018 PMID: 29968200

Text-mined citations for rs1057517250...

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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