ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2323_2326del (p.Glu775fs) (rs267608654)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144793 SCV000191017 pathogenic not provided 2013-01-31 criteria provided, single submitter clinical testing The c.2323_2326delGAGA mutation in the CDKL5 gene causes a frameshift starting with codon Glutamic acid 775, changes this amino acid to a Serine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Glu775SerfsX8. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, many other frameshift mutations have been reported in the CDKL5 gene in association with epilepsy. The variant is found in INFANT-EPI panel(s).

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