ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.554+4A>G

dbSNP: rs2147145614
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386231 SCV001586371 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-11-27 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the CDKL5 gene. It does not directly change the encoded amino acid sequence of the CDKL5 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of CDKL5-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1073273). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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