ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) (rs201492706)

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Total submissions: 9
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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 RCV000079296 SCV000050758 likely benign not provided 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000157124 SCV000206847 uncertain significance Restrictive cardiomyopathy; Long QT syndrome 2014-06-24 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000288792 SCV000503535 likely benign Brugada syndrome 2016-08-01 no assertion criteria provided research Found in patient having exome sequencing for an unrelated indication. No known history of Brugada syndrome.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079296 SCV000111166 uncertain significance not provided 2015-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000212340 SCV000223310 likely benign not specified 2017-09-07 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.
Illumina Clinical Services Laboratory,Illumina RCV000288792 SCV000377890 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343666 SCV000377891 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000079296 SCV000697549 likely benign not provided 2017-01-16 criteria provided, single submitter clinical testing Variant summary: The CACNA1C c.5150C>G (p.Ala1717Gly) variant involves the alteration of a conserved nucleotide. 2/2 in silico tools predict a damaging outcome for this variant. This variant was found in 70/88630 control chromosomes at a frequency of 0.0007898, which is approximately 79 times the estimated maximal expected allele frequency of a pathogenic CACNA1C variant (0.00001), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000205950 SCV000259473 likely benign Long QT syndrome 2018-01-09 criteria provided, single submitter clinical testing

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