ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) (rs185788586)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171751 SCV000055189 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000079302 SCV000167512 likely benign not specified 2011-09-07 criteria provided, single submitter clinical testing 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 a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001079466 SCV000260703 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079302 SCV000305456 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079302 SCV000332653 benign not specified 2015-07-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000171751 SCV000511587 benign not provided 2017-02-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000171751 SCV000697554 benign not provided 2017-01-16 criteria provided, single submitter clinical testing Variant summary: The CACNA1C c.5665C>T (p.Arg1889Cys) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 899/121392 control chromosomes (36 homozygotes), predominantly observed in the Latino subpopulation at a frequency of 0.0728206 (837/11494). This frequency is about 7282 times the estimated maximal expected allele frequency of a pathogenic CACNA1C variant (0.00001), strong evidence that this is a benign polymorphism found primarily in the populations of Latino origin. The variant has been reported in the literature, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Ambry Genetics RCV000621082 SCV000735502 benign Cardiovascular phenotype 2015-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715413 SCV000846242 benign History of neurodevelopmental disorder 2015-09-04 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852666 SCV000995373 likely benign Arrhythmogenic right ventricular cardiomyopathy 2017-08-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000079302 SCV001159344 benign not specified 2019-03-13 criteria provided, single submitter clinical testing

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