ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=)

gnomAD frequency: 0.00004  dbSNP: rs148302590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690832 SCV000818561 uncertain significance Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2019-09-12 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with CDKL5-related disease. This variant is present in population databases (rs148302590, ExAC 0.01%). This sequence change affects codon 372 of the CDKL5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CDKL5 protein.

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