ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2899G>T (p.Glu967Ter)

dbSNP: rs1555755929
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498551 SCV000589493 likely pathogenic not provided 2015-10-13 criteria provided, single submitter clinical testing The E968X likely pathogenic 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 cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E968X variant was not observed in approximately 3000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E968X variant is a strong candidate for a pathogenic variant. However the possibility it may be a rare benign variant cannot be excluded.

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