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NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 6, 2020)
Last evaluated:
Dec 24, 2019
Accession:
VCV000805298.2
Variation ID:
805298
Description:
single nucleotide variant
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NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp)

Allele ID
793476
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23339237 (GRCh38) GRCh38 UCSC
13: 23913376 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23913376T>A
NC_000013.11:g.23339237T>A
NM_014363.6:c.4639A>T MANE Select NP_055178.3:p.Arg1547Trp missense
... more HGVS
Protein change
R1400W, R1547W
Other names
-
Canonical SPDI
NC_000013.11:23339236:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00004
Links
dbSNP: rs772907934
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 Jun 28, 2019 RCV000992792.1
Uncertain significance 1 criteria provided, single submitter Dec 24, 2019 RCV001051001.1
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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
1807 1899

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 28, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001145336.1
Submitted: (Sep 25, 2019)
Evidence details
Uncertain significance
(Dec 24, 2019)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001215134.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces arginine with tryptophan at codon 1547 of the SACS protein (p.Arg1547Trp). The arginine residue is highly conserved and there is a … (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 rs772907934...

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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 Jun 27, 2020