Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Dec 28, 2020)
Last evaluated:
Jul 2, 2019
Accession:
VCV000311543.5
Variation ID:
311543
Description:
single nucleotide variant
Help

NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)

Allele ID
335701
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23338940 (GRCh38) GRCh38 UCSC
13: 23913079 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23913079G>T
NC_000013.11:g.23338940G>T
NM_014363.6:c.4936C>A MANE Select NP_055178.3:p.Leu1646Met missense
... more HGVS
Protein change
L1646M, L1499M
Other names
-
Canonical SPDI
NC_000013.11:23338939:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00018
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00010
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00018
Links
ClinGen: CA6911320
dbSNP: rs200810800
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Oct 31, 2018 RCV000300780.4
Uncertain significance 1 criteria provided, single submitter Feb 8, 2019 RCV000516210.2
Uncertain significance 1 criteria provided, single submitter Jul 2, 2019 RCV001242340.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896346.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Feb 08, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000614958.2
Submitted: (Sep 25, 2019)
Evidence details
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: SCV000383352.3
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
(Jul 02, 2019)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001415421.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces leucine with methionine at codon 1646 of the SACS protein (p.Leu1646Met). The leucine residue is highly conserved and there is a … (more)
Uncertain significance
(Nov 11, 2019)
no assertion criteria provided
Method: clinical testing
Charlevoix-Saguenay type spastic ataxia
Allele origin: germline
Natera, Inc.
Accession: SCV001460061.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs200810800...

Help
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