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NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 24, 2020
Accession:
VCV000093393.6
Variation ID:
93393
Description:
single nucleotide variant
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NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)

Allele ID
99300
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.33
Genomic location
12: 2512953 (GRCh38) GRCh38 UCSC
12: 2622119 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_334:g.547168C>T
LRG_334t1:c.1359C>T
NC_000012.11:g.2622119C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:2512952:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00039
The Genome Aggregation Database (gnomAD) 0.00064
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00019
Trans-Omics for Precision Medicine (TOPMed) 0.00054
Links
ClinGen: CA221245
dbSNP: rs200330469
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Apr 13, 2015 RCV000079277.6
Likely benign 1 criteria provided, single submitter Nov 16, 2015 RCV000250456.1
Likely benign 1 criteria provided, single submitter Nov 16, 2015 RCV000719050.1
Uncertain significance 1 criteria provided, single submitter Aug 8, 2013 RCV000723668.3
Benign 1 criteria provided, single submitter Nov 24, 2020 RCV001082734.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNA1C Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1101 1653

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 08, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111147.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Apr 13, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000515665.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Nov 16, 2015)
criteria provided, single submitter
Method: clinical testing
cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000320376.4
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Nov 16, 2015)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000849914.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Nov 24, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000285585.6
Submitted: (Jan 07, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CACNA1C - - - -

Text-mined citations for rs200330469...

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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 30, 2021