ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4383G>A (p.Trp1461Ter)

dbSNP: rs1057518069
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413385 SCV000491446 likely pathogenic not provided 2016-02-08 criteria provided, single submitter clinical testing The W1462X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,000 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 W1462X nonsense variant in the CACNA1A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, multiple downstream nonsense variants have been reported in Human Gene Mutation Database in association with CACNA1A-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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