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NM_014363.6(SACS):c.1441G>T (p.Glu481Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 16, 2018
Accession:
VCV000647530.1
Variation ID:
647530
Description:
single nucleotide variant
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NM_014363.6(SACS):c.1441G>T (p.Glu481Ter)

Allele ID
641622
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23355171 (GRCh38) GRCh38 UCSC
13: 23929310 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23929310C>A
NC_000013.11:g.23355171C>A
NM_014363.6:c.1441G>T MANE Select NP_055178.3:p.Glu481Ter nonsense
... more HGVS
Protein change
E334*, E481*
Other names
-
Canonical SPDI
NC_000013.11:23355170:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1593144887
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 16, 2018 RCV000802055.1
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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
Pathogenic
(Nov 16, 2018)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV000941868.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Glu481*) in the SACS gene. It is expected to result in an absent or disrupted protein … (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 rs1593144887...

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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