ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) (rs148317787)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760649 SCV000890541 likely pathogenic not provided 2018-08-06 criteria provided, single submitter clinical testing The W300X variant in the CACNA1S 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 W300X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret W300X as a likely pathogenic variant.

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