ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.100-2A>G (rs267608423)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046060 SCV001209945 pathogenic Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-11-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the CDKL5 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with early-onset seizures (PMID: 19793311). ClinVar contains an entry for this variant (Variation ID: 156073). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 19793311). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000144120 SCV000189196 not provided not provided no assertion provided not provided
RettBASE RCV000169990 SCV000222295 pathogenic Early infantile epileptic encephalopathy 2 2014-03-13 no assertion criteria provided curation Splice site mutation causing skipping of exon 4

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