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NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 26, 2021)
Last evaluated:
Jul 16, 2020
Accession:
VCV000965645.2
Variation ID:
965645
Description:
single nucleotide variant
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NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)

Allele ID
957041
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23334625 (GRCh38) GRCh38 UCSC
13: 23908764 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23908764A>G
NC_000013.11:g.23334625A>G
NM_014363.6:c.9251T>C MANE Select NP_055178.3:p.Ile3084Thr missense
... more HGVS
Protein change
I2937T, I3084T
Other names
-
Canonical SPDI
NC_000013.11:23334624:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Mar 28, 2019 RCV001240147.1
Uncertain significance 1 criteria provided, single submitter Jul 16, 2020 RCV001507817.1
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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
(Mar 28, 2019)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001413071.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces isoleucine with threonine at codon 3084 of the SACS protein (p.Ile3084Thr). The isoleucine residue is weakly conserved and there is a … (more)
Uncertain significance
(Jul 16, 2020)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713617.1
Submitted: (May 26, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 14, 2021