Gene: CACNA1C ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205748
rs786205748
CACNA1C
0.710 GeneticVariation BEFREE Using patient-specific hiPSC-CM mutant and isogenic control lines, we demonstrate that the CACNA1C-p.R518C variant is the self-sufficient, monogenetic substrate for the patient's long-QT syndrome phenotype. 31430211

2019
dbSNP: rs79891110
rs79891110
CACNA1C
0.710 GeneticVariation BEFREE Two probands were identified with mutations in CACNA1C, one with a TS-associated mutation, G406R, and a second with genotype-negative LQTS. 27390944

2016
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. 26822303

2016
dbSNP: rs786205748
rs786205748
CACNA1C
T 0.710 CausalMutation CLINVAR Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome. 26253506

2015
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2? 26227324

2015
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Imaging diagnosis-ultrasonographic and CT findings in a gray seal (Halichoerus grypus) with hepatic cirrhosis, pyelonephritis, and nephrolithiasis. 23578275

2014
dbSNP: rs750835733
rs750835733
CACNA1C
T 0.710 GeneticVariation CLINVAR This mutation, Pro857Arg-CACNA1C, cosegregated with the disease within the pedigree, was ranked by 3 disease-network algorithms as the most probable LQTS-susceptibility gene and involves a conserved residue localizing to the proline, gltamic acid, serine, and threonine (PEST) domain in the II-III linker. 23677916

2013
dbSNP: rs750835733
rs750835733
CACNA1C
0.710 GeneticVariation BEFREE This mutation, Pro857Arg-CACNA1C, cosegregated with the disease within the pedigree, was ranked by 3 disease-network algorithms as the most probable LQTS-susceptibility gene and involves a conserved residue localizing to the proline, gltamic acid, serine, and threonine (PEST) domain in the II-III linker. 23677916

2013
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome. 23690510

2013
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). 23580742

2013
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. 21910241

2011
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. 19074970

2009
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. 18250309

2008
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 15863612

2005
dbSNP: rs79891110
rs79891110
CACNA1C
A 0.710 CausalMutation CLINVAR Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078

2004
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. 26822303

2016
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. 25691416

2015
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain. 23979604

2014
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2). 24773605

2014
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein. 21685391

2011
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 15863612

2005
dbSNP: rs1343191564
rs1343191564
CACNA1C ; CACNA1C-AS1
0.010 GeneticVariation BEFREE Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family. 29691127

2019
dbSNP: rs377564636
rs377564636
CACNA1C ; CACNA1C-AS1
0.010 GeneticVariation BEFREE A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval. 29691127

2019
dbSNP: rs749945590
rs749945590
CACNA1C ; CACNA1C-AS1
0.010 GeneticVariation BEFREE Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family. 29691127

2019