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NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 25, 2018)
Last evaluated:
Dec 30, 2017
Accession:
VCV000623376.1
Variation ID:
623376
Description:
single nucleotide variant
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NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser)

Allele ID
612299
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23330422 (GRCh38) GRCh38 UCSC
13: 23904561 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23904561A>G
NC_000013.11:g.23330422A>G
NG_012342.1:g.108281T>C
... more HGVS
Protein change
L4485S, L4338S
Other names
-
Canonical SPDI
NC_000013.11:23330421:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1566054340
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Dec 30, 2017 RCV000761525.1
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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
Pathogenic
(Dec 30, 2017)
criteria provided, single submitter
Method: curation
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Department of Genetics,Sultan Qaboos University Hospital, Oman
Accession: SCV000891659.1
Submitted: (Oct 25, 2018)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1566054340...

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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