ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.220G>T (p.Glu74Ter) (rs587783073)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144735 SCV000190943 pathogenic not provided 2013-01-11 criteria provided, single submitter clinical testing The Glu74Stop 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, many other nonsense mutations have been reported in CDKL5 in association with epilepsy. The variant is found in INFANT-EPI panel(s).

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