ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3946-44C>T (rs760982440)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170806 SCV000223361 uncertain significance not provided 2012-05-16 criteria provided, single submitter clinical testing p.Pro1323Leu (CCT>CTT): c.3968 C>T in exon 32 in an alternative transcript of the CACNA1C gene (NM_001129829.1). The Pro1323Leu variant in the CACNA1C gene has not been reported previously as a disease-causing mutation or as a benign polymorphism. Pro1323Leu is located in an alternative transcript of the CACNA1C gene and no other mutations have been reported in this transcript. Furthermore, Pro1323Leu is a conservative amino acid substitution of a neutral, non-polar Proline with a neutral, non-polar Leucine. However, the NHLBI ESP Exome Variant Server reports Pro1323Leu was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common variant in these populations. In summary, with the clinical and molecular information available at this time, we cannot determine whether the Pro1323Leu variant 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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