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NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Dec 21, 2016
Accession:
VCV000550149.1
Variation ID:
550149
Description:
6bp deletion
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NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del)

Allele ID
547175
Variant type
Deletion
Variant length
6 bp
Cytogenetic location
13q12.12
Genomic location
13: 23333220-23333225 (GRCh38) GRCh38 UCSC
13: 23907359-23907364 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23907361_23907366del
NC_000013.11:g.23333222_23333227del
NG_012342.1:g.105478_105483del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:23333219:AAGCATAA:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555250156
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 Dec 21, 2016 RCV000664815.1
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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
(Dec 21, 2016)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000788830.1
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
Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Leavitt JA Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2014 PMID: 25237835

Text-mined citations for rs1555250156...

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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