ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.522G>A (p.Ala174=)

gnomAD frequency: 0.16949  dbSNP: rs1544514
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079297 SCV000111167 benign not specified 2013-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000079297 SCV000167474 benign not specified 2011-07-10 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.
PreventionGenetics, part of Exact Sciences RCV000079297 SCV000305452 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248885 SCV000317419 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Ambry Genetics RCV000715385 SCV000846214 benign History of neurodevelopmental disorder 2015-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000860167 SCV001000118 benign Long QT syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554436 SCV001775681 benign Timothy syndrome 2021-07-14 criteria provided, single submitter clinical testing

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