ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2113G>A (p.Gly705Arg) (rs786205750)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170786 SCV000223341 uncertain significance not provided 2014-03-16 criteria provided, single submitter clinical testing p.Gly705Arg (GGG>AGG): c.2113 G>A in exon 15 of the CACNA1C gene (NM_000719.6). The G705R variant in the CACNA1C gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. G705R results in a non-conservative amino acid substitution of a non-polar Glycine with a positively charged Arginine at a residue that is conserved across species. In silico analysis predicts G705R is probably damaging to the protein structure or function. The NHLBI ESP Exome Variant Server reports G705R was not observed in approximately 6,300 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. However, no pathogenic mutations have been reported in this region of the CACNA1C gene to date.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 LQT panel(s).

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