ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4910_4912del (p.Gln1637_Gly1638delinsArg) (rs786205772)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170832 SCV000223387 uncertain significance not provided 2013-06-02 criteria provided, single submitter clinical testing The c.4910_4912delAGG variant in the CACNA1C gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. This variant results in an in-frame deletion of three base pairs starting at codon Glutamine 1637, resulting in the introduction of an Arginine in replacement of Glutamine 1637 and Glycine 1638, denoted p.Gln1637_Gly1638delinsArg. The Glutamine 1637 and Glycine 1638 residues are both conserved across species. Other in-frame deletions/duplications in the CACNA1C gene have been reported in association with Brugada syndrome. With the clinical and molecular information available at this time, we cannot definitively determine if c.4910_4912delAGG is a pathogenic variant or a rare benign variant.

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