ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.250A>T (p.Lys84Ter) (rs587783074)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144736 SCV000190944 pathogenic not provided 2013-01-31 criteria provided, single submitter clinical testing The Lys84Stop 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. The variant is found in INFANT-EPI panel(s).

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