ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2276+1G>A

dbSNP: rs1602292181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004660 SCV001164109 pathogenic Developmental and epileptic encephalopathy, 2 2015-10-28 criteria provided, single submitter clinical testing
Invitae RCV001860565 SCV002292246 likely pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2021-11-10 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 813729). Disruption of this splice site has been observed in individual(s) with clinical features of CDKL5-related conditions (PMID: 22872100). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 15 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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