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NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jun 21, 2017
Accession:
VCV000552380.1
Variation ID:
552380
Description:
single nucleotide variant
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NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile)

Allele ID
547237
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23338237 (GRCh38) GRCh38 UCSC
13: 23912376 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23912376G>A
NC_000013.11:g.23338237G>A
NG_012342.1:g.100466C>T
... more HGVS
Protein change
T1880I, T1733I
Other names
-
Canonical SPDI
NC_000013.11:23338236:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555252070
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 21, 2017 RCV000667624.1
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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
Uncertain significance
(Jun 21, 2017)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000792103.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

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
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. Romano A Human mutation 2013 PMID: 23280630

Text-mined citations for rs1555252070...

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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