ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3717+1_3717+2insA (rs1555887068)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498202 SCV000589959 uncertain significance not provided 2017-04-05 criteria provided, single submitter clinical testing The c.3717+1_3717+2insA variant of uncertain significance in the CACNA1C gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). While the c.3717+1_3717+2insA variant is predicted to destroy the canonical splice donor site in intron 28, the physiological consequence of this variant cannot be precisely determined in the absence of functional mRNA studies. In addition, the majority of pathogenic variants reported in the CACNA1C gene are missense variants (Stenson et al., 2014) and the clinical significance of haploinsufficiency is not well established. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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