ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr) (rs367895193)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170802 SCV000223357 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing The A1288T variant of uncertain significance in the CACNA1C gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. A1288T was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, and was not observed with any significant frequency in the Exome Aggregation Consortium, indicating it is not a common benign variant in these populations. The A1288T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Moreover, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, no pathogenic missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014), indicating that this region of the gene is not known to harbor disease-causing variants.
Illumina Clinical Services Laboratory,Illumina RCV000295765 SCV000377844 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324911 SCV000377845 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001085234 SCV000553012 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719972 SCV000850846 uncertain significance History of neurodevelopmental disorder 2017-04-17 criteria provided, single submitter clinical testing Insufficient evidence

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