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NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 27, 2019
Accession:
VCV000222515.45
Variation ID:
222515
Description:
single nucleotide variant
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NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)

Allele ID
224443
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.33
Genomic location
12: 2593252 (GRCh38) GRCh38 UCSC
12: 2702418 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001167623.2:c.2570C>T NP_001161095.1:p.Pro857Leu missense
NM_001167624.2:c.2570C>T NP_001161096.2:p.Pro857Leu missense
NM_001167625.1:c.2570C>T NP_001161097.1:p.Pro857Leu missense
... more HGVS
Protein change
P857L, P854L
Other names
-
Canonical SPDI
NC_000012.12:2593251:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA353931
OMIM: 114205.0006
dbSNP: rs750835733
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 27, 2019 RCV000208178.2
Pathogenic 1 no assertion criteria provided Aug 6, 2021 RCV000782178.4
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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
1078 1622

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 08, 2015)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Blueprint Genetics
Accession: SCV000263797.2
Submitted: (Jan 15, 2016)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Dec 27, 2019)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV001226554.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces proline with leucine at codon 857 of the CACNA1C protein (p.Pro857Leu). The proline residue is moderately conserved and there is a … (more)
Pathogenic
(Aug 06, 2021)
no assertion criteria provided
Method: literature only
LONG QT SYNDROME 8
Allele origin: germline
OMIM
Accession: SCV000920646.57
Submitted: (Jun 05, 2019)
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
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). Mellor G Circulation. Cardiovascular genetics 2017 PMID: 28600387
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Boczek NJ Circulation. Cardiovascular genetics 2013 PMID: 23677916

Text-mined citations for rs750835733...

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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