ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.907_908insCC (p.Leu303fs) (rs1602282705)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008405 SCV001168174 pathogenic not provided 2018-11-14 criteria provided, single submitter clinical testing The c.907_908insCC pathogenic variant in the CDKL5 gene causes a frameshift starting with codon Leucine 303, changes this amino acid to a Proline residue and creates a premature Stop codon at position 48 of the new reading frame, denoted p.Leu303ProfsX48. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.907_908insCC variant is not observed in large population cohorts (Lek et al., 2016). This variant is considered a pathogenic variant.

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