ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5573+5G>C (rs786205768)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170827 SCV000223382 uncertain significance not provided 2012-12-31 criteria provided, single submitter clinical testing c.5573+5 G>C: IVS43+5 G>C in intron 43 of the CACNA1C gene (NM_000719.6). The c.5573+5 G>C variant has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. This variant is predicted to destroy the splice donor site in intron 43 and is may cause abnormal gene splicing. The variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, no splice site mutations in the CACNA1C gene have been reported in association with LQTS. With the clinical and molecular information available at this time, we cannot definitively determine if c.5573+5 G>C is a disease-causing mutation or a rare benign variant. The variant is found in LQT panel(s).

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