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NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000695623.5
Variation ID:
695623
Description:
single nucleotide variant
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NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)

Allele ID
684411
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23355234 (GRCh38) GRCh38 UCSC
13: 23929373 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23929373G>A
NC_000013.11:g.23355234G>A
NG_012342.1:g.83469C>T
... more HGVS
Protein change
L313F, L460F
Other names
-
Canonical SPDI
NC_000013.11:23355233:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00067
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00115
Trans-Omics for Precision Medicine (TOPMed) 0.00100
1000 Genomes Project 0.00140
Links
dbSNP: rs145213666
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 6, 2020 RCV000861435.3
Likely benign 1 criteria provided, single submitter Jun 15, 2020 RCV001288706.1
Uncertain significance 1 no assertion criteria provided Jan 10, 2020 RCV001277270.1
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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
Likely benign
(Jun 15, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476016.1
Submitted: (Dec 30, 2020)
Evidence details
Likely benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001001745.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 10, 2020)
no assertion criteria provided
Method: clinical testing
Charlevoix-Saguenay type spastic ataxia
Allele origin: germline
Natera, Inc.
Accession: SCV001464186.1
Submitted: (Dec 28, 2020)
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.

Text-mined citations for rs145213666...

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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 Oct 08, 2021