ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6781-12A>G

dbSNP: rs1289629816
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658111 SCV000779882 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing The c.6784-17 A>G variant in the CACNA1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to create a new splice acceptor site upstream of the natural site for intron 46 and is expected to cause abnormal gene splicing. The c.6784-17 A>G variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.6784-17 A>G as a variant of uncertain significance.

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