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NM_014363.6(SACS):c.2829dup (p.Leu944fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 14, 2020)
Accession:
VCV000977803.1
Variation ID:
977803
Description:
1bp duplication
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NM_014363.6(SACS):c.2829dup (p.Leu944fs)

Allele ID
965932
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23341046-23341047 (GRCh38) GRCh38 UCSC
13: 23915185-23915186 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23915189dup
NC_000013.11:g.23341050dup
NG_012342.1:g.97656dup
... more HGVS
Protein change
L797fs, L944fs
Other names
-
Canonical SPDI
NC_000013.11:23341046:TTTT:TTTTT
Functional consequence
Unknown function
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 - RCV001255707.1
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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
(-)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
(Autosomal recessive inheritance)
Allele origin: unknown
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia
Accession: SCV001424325.1
Submitted: (Sep 14, 2020)
Evidence details

Functional evidence

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Functional consequence Method Result Submitter Supporting information
Unknown function
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia
Accession: SCV001424325.1
Submitted: (Sep 14, 2020)
Evidence details

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.

Record last updated Oct 08, 2021