ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1509-12T>G (rs200412525)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498274 SCV000590277 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1C gene. The c.1509-12 T>G variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 4/2326 (0.2%) alleles from individuals of European (Finnish) ancestry, indicating it may be a rare benign variant in this population, and in 5/17882 (0.03%) alleles from individuals of European (Non-Finnish) ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). The c.1509-12 T>G occurs at a nucleotide position that is not conserved across species. This variant may reduce the efficiency of the natural splice acceptor site for inron 11, but in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Finally, no other non-canonical splice site variants in the CACNA1C gene have been reported in HGMD in association with CACNA1C-related disorders (Stenson et al., 2014).

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