ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2148_2149del (p.Tyr716_Arg717delinsTer) (rs587783119)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144790 SCV000191014 pathogenic not provided 2014-08-07 criteria provided, single submitter clinical testing The Y716X 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 nonsense mutations in CDKL5 have been published in association with CDKL5-related disorders. This variant has been seen as a mosaic. The variant is found in INFANT-EPI panel(s).

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