ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.282+4del (rs587783110)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144781 SCV000191005 pathogenic not provided 2013-01-11 criteria provided, single submitter clinical testing The c.282+4delA mutation results in the deletion of a single "A" nucleotide at the exon 5/intron 5 splice junction. This mutation is predicted to destroy the natural splice donor site in intron 5 and is expected 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. The variant is found in EPILEPSY panel(s).

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