ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2469del (p.Glu824fs)

dbSNP: rs587783124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144795 SCV000191019 pathogenic not provided 2014-04-22 criteria provided, single submitter clinical testing The c.2469delC mutation in the CDKL5 gene causes a frameshift starting with codon Glutamic acid 824, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Glu824ArgfsX13. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in INFANT-EPI panel(s).
PreventionGenetics, part of Exact Sciences RCV003982901 SCV004797247 pathogenic CDKL5-related condition 2023-12-13 criteria provided, single submitter clinical testing The CDKL5 c.2469delC variant is predicted to result in a frameshift and premature protein termination (p.Glu824Argfs*13). This variant was reported in an individual with epilepsy and/or neurodevelopmental disorders (Lindy et al 2018. PubMed ID: 29655203). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in CDKL5 are expected to be pathogenic. This variant is interpreted as pathogenic.

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