ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2866C>T (p.Arg956Ter)

dbSNP: rs1245624754
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566112 SCV001789585 likely pathogenic not provided 2021-06-29 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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