ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3829-584G>A (rs786205761)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170801 SCV000223356 uncertain significance not provided 2012-06-08 criteria provided, single submitter clinical testing IVS31+1 G>A: c.3972+1 G>A in intron 31 in an alternative transcript of the CACNA1C gene (NM_199460.2). The c.3972+1 G>A variant in the CACNA1C gene has not been reported as a disease causing mutation or as a benign polymorphism, to our knowledge. The c.3972+1 G>A variant destroys the canonical splice donor site in intron 31; however, this variant occurs in an alternative transcript of the CACNA1C gene where no mutations have been reported in association with LQTS or Timothy syndrome. In summary, with the clinical and molecular information available at this time, we cannot determine whether c.3972+1 G>A in the CACNA1C gene is a disease-causing mutation or a benign variant. The variant is found in LQT panel(s).

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