ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2996dup (p.Glu1000fs)

dbSNP: rs2057721188
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288835 SCV001476220 pathogenic not provided 2020-02-05 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.

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