ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1670C>G (p.Ser557Ter) (rs587783145)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144819 SCV000191054 pathogenic not provided 2013-02-21 criteria provided, single submitter clinical testing The Ser557Stop nonsense mutation in the CDKL5 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, other nonsense mutations have been reported in the CDKL5 gene in association with epilepsy. The variant is found in EPILEPSY panel(s).

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