ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2522dup (p.Leu842fs) (rs886042014)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000336867 SCV000330844 pathogenic not provided 2016-09-28 criteria provided, single submitter clinical testing The c.2522dupA pathogenic variant in the CDKL5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2522dupA variant causes a frameshift starting with codon Leucine 842, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 68 of the new reading frame, denoted p.Leu842ValfsX68. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2522dupA variant was confirmed to have occurred de novo in this individual. It was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2522dupA as a pathogenic variant.

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