ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.404-3C>A (rs587783079)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144741 SCV000190951 likely pathogenic not provided 2012-07-10 criteria provided, single submitter clinical testing The c.404-3 C>A nucleotide substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Multiple in silico models predict that the c.404-3 C>A substitution damages the native splice acceptor site at the intron 6/exon 7 junction of the CDKL5 gene. Therefore, based on the currently available information, c.404-3 C>A is a strong candidate to be a disease-causing mutation; however, the possibility that it is a benign variant cannot be excluded. The variant is found in INFANT-EPI panel(s).

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