ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)

gnomAD frequency: 0.00010  dbSNP: rs758166168
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455282 SCV000538552 uncertain significance not specified 2016-10-20 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Arg1906Gln on HGMD transcript. Reported in 1 LQT proband
Invitae RCV000473271 SCV000553035 likely benign Long QT syndrome 2023-12-14 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852445 SCV000995137 uncertain significance Primary dilated cardiomyopathy 2017-05-19 criteria provided, single submitter clinical testing
GeneDx RCV001550202 SCV001770497 uncertain significance not provided 2020-02-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31179551, 25184293, 23677916)
Ambry Genetics RCV002348254 SCV002647618 likely benign Cardiovascular phenotype 2023-08-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002481357 SCV002785431 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-09-30 criteria provided, single submitter clinical testing

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