ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.555-2A>G (rs1555950455)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658297 SCV000780068 pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing A pathogenic variant has been identified in the CDKL5 gene. The c.555-2 A>G splice site variant in the CDKL5 gene destroys the canonical splice acceptor site in intron 8. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.555-2 A>G variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of a CDKL5-related disorder in this individual.

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