ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) (rs200231105)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755481 SCV000602905 benign not provided 2017-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617504 SCV000735311 likely benign Cardiovascular phenotype 2017-11-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Ambry Genetics RCV000716928 SCV000847773 likely benign History of neurodevelopmental disorder 2017-11-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171801 SCV000050810 benign not specified 2013-06-24 criteria provided, single submitter research
CSER_CC_NCGL; University of Washington Medical Center RCV000211440 SCV000212194 uncertain significance Brugada syndrome 2015-03-11 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000211440 SCV000377908 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387253 SCV000377909 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000631698 SCV000752782 uncertain significance Long QT syndrome 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1865 of the CACNA1C protein (p.Glu1865Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CACNA1C-related disease. ClinVar contains an entry for this variant (Variation ID: 191566). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000755481 SCV000987657 uncertain significance not provided criteria provided, single submitter clinical testing

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