ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.858C>A (p.Tyr286Ter) (rs766511365)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479853 SCV000567548 pathogenic not provided 2015-08-06 criteria provided, single submitter clinical testing The Y286X nonsense variant in the CDKL5 gene is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating itis not a common benign variant in these populations. Although this variant has not been reported previouslyto our knowledge, we consider it to be pathogenic.

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