ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1007_1014del (p.Gln336fs) (rs1064793381)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481615 SCV000565966 pathogenic not provided 2015-03-17 criteria provided, single submitter clinical testing The c.1007_1014delAGTCTCAC variant in the CDKL5 gene causes a frameshift starting with codonGlutamine 336, changes this amino acid to a Proline residue and creates a premature Stop codon at position 4of the new reading frame, denoted p.Gln336ProfsX4. This deletion is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, we consider it to be pathogenic.

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