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NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Dec 28, 2020)
Last evaluated:
May 24, 2018
Accession:
VCV000311536.3
Variation ID:
311536
Description:
single nucleotide variant
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NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)

Allele ID
319252
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23337817 (GRCh38) GRCh38 UCSC
13: 23911956 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23911956C>T
NC_000013.11:g.23337817C>T
NM_014363.6:c.6059G>A MANE Select NP_055178.3:p.Gly2020Glu missense
... more HGVS
Protein change
G2020E, G1873E
Other names
-
Canonical SPDI
NC_000013.11:23337816:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA6911144
dbSNP: rs747566710
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Jan 13, 2018 RCV000347234.3
Uncertain significance 1 criteria provided, single submitter May 31, 2017 RCV000517759.1
Uncertain significance 1 criteria provided, single submitter May 24, 2018 RCV000699474.1
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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
(May 31, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000614968.1
Submitted: (Aug 17, 2017)
Evidence details
Uncertain significance
(May 24, 2018)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV000828187.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glycine with glutamic acid at codon 2020 of the SACS protein (p.Gly2020Glu). The glycine residue is highly conserved and there is … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000383344.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Charlevoix-Saguenay type spastic ataxia
Allele origin: germline
Natera, Inc.
Accession: SCV001463605.1
Submitted: (Dec 28, 2020)
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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs747566710...

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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 Aug 27, 2021