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NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 3, 2020
Accession:
VCV000558550.2
Variation ID:
558550
Description:
2bp microsatellite
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NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)

Allele ID
546806
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
13q12.12
Genomic location
13: 23331040-23331041 (GRCh38) GRCh38 UCSC
13: 23905179-23905180 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23905179AG[1]
NC_000013.11:g.23331040AG[1]
NG_012342.1:g.107660CT[1]
... more HGVS
Protein change
L4132fs, L4279fs
Other names
-
Canonical SPDI
NC_000013.11:23331039:AGAG:AG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555249425
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 May 30, 2018 RCV000674839.1
Pathogenic 1 criteria provided, single submitter Feb 3, 2020 RCV001381028.1
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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
(May 30, 2018)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000800240.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Feb 03, 2020)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001579279.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the SACS gene (p.Leu4279Phefs*4). While this is not anticipated to result in nonsense mediated … (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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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 rs1555249425...

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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