ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2376+2T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002806805 SCV003199255 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-03-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1994376). Disruption of this splice site has been observed in individual(s) with CDKL5-related conditions (PMID: 34229227). In at least one individual the variant was observed to be de novo. This sequence change affects a donor splice site in intron 16 of the CDKL5 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100).

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