ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5026_5028GAG[2] (p.Glu1678del) (rs786205773)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170833 SCV000223388 uncertain significance not provided 2013-03-26 criteria provided, single submitter clinical testing The c.5032_5034delGAG variant in the CACNA1C gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. This in-frame variant results in the deletion of three nucleotides, and consequently causes the deletion of a Glutamic acid residue at position 1678 in the CACNA1C protein. This variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, mutations in nearby residues have not been reported indicating this region of the protein may tolerate change. With the clinical and molecular information available at this time, we cannot definitively determine if c.5032_5034delGAG is a disease-causing mutation or a rare benign variant.

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