ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter)

dbSNP: rs1558075630
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760690 SCV000890582 likely pathogenic not provided 2018-08-17 criteria provided, single submitter clinical testing The W423X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The W423X variant is not observed in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.

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