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NM_014363.6(SACS):c.11887A>G (p.Met3963Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 30, 2020)
Last evaluated:
Sep 3, 2020
Accession:
VCV000994929.2
Variation ID:
994929
Description:
single nucleotide variant
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NM_014363.6(SACS):c.11887A>G (p.Met3963Val)

Allele ID
982850
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23331989 (GRCh38) GRCh38 UCSC
13: 23906128 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23906128T>C
NC_000013.11:g.23331989T>C
NG_012342.1:g.106714A>G
... more HGVS
Protein change
M3816V, M3963V
Other names
-
Canonical SPDI
NC_000013.11:23331988:T:C
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 Sep 3, 2020 RCV001288697.2
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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
(Sep 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476007.2
Submitted: (Dec 30, 2020)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. Romano A Human mutation 2013 PMID: 23280630

Record last updated Sep 18, 2021