ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3829-626G>A (rs786205760)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170800 SCV000223355 uncertain significance not provided 2014-04-29 criteria provided, single submitter clinical testing p.Val1291Ile (GTA>ATA): c.3871 G>A in exon 30 of the CACNA1C gene (NM_001167624.1). The V1291I variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The V1291I variant was not observed in approximately 5,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In silico analysis predicts this variant is probably damaging to the protein structure/function. This substitution occurs at a position that is conserved across species. However, the V1291I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, this variant resides in an alternate transcript of CACNA1C in which no missense mutations have been reported.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in ARRHYTHMIA panel(s).

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