ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=) (rs757290350)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485891 SCV000573999 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1C gene. The c.3258 C>T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed with any significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This nucleotide substitution does not change the encoded amino acid, which is conserved through mammals. Several in silico splice algorithms do not predict that this change results in abnormal gene splicing; however, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.

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