ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.99+9A>G

dbSNP: rs1602233003
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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 RCV000817875 SCV000958459 uncertain significance Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2020-06-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CDKL5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 3 of the CDKL5 gene. It does not directly change the encoded amino acid sequence of the CDKL5 protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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