ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.826-1G>C (rs587783149)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144825 SCV000191060 pathogenic not provided 2012-11-09 criteria provided, single submitter clinical testing The c.826-1 G>C splice site mutation in the CDKL5 gene destroys the canonical splice acceptor site in intron 10. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although this mutation has not been previously reported to our knowledge, other splice site mutations have been reported in the CDKL5 gene. The variant is found in EPILEPSY panel(s).

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