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NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 1, 2020
Accession:
VCV000805299.2
Variation ID:
805299
Description:
single nucleotide variant
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NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)

Allele ID
793475
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23337512 (GRCh38) GRCh38 UCSC
13: 23911651 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.11:g.23337512T>C
NC_000013.10:g.23911651T>C
NM_014363.6:c.6364A>G MANE Select NP_055178.3:p.Lys2122Glu missense
... more HGVS
Protein change
K1975E, K2122E
Other names
-
Canonical SPDI
NC_000013.11:23337511:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00011
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
dbSNP: rs755723511
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 Jan 17, 2019 RCV000992793.1
Uncertain significance 1 criteria provided, single submitter Oct 1, 2020 RCV001362985.1
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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
(Jan 17, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001145340.1
Submitted: (Sep 25, 2019)
Evidence details
Uncertain significance
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001559054.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with glutamic acid at codon 2122 of the SACS protein (p.Lys2122Glu). The lysine residue is highly conserved and there is … (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 rs755723511...

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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 Apr 18, 2021