ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.554+5G>A

dbSNP: rs1925577525
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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 RCV001320410 SCV001511192 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 1020776). This variant has been observed in individual(s) with clinical features of CDKL5-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the CDKL5 gene. It does not directly change the encoded amino acid sequence of the CDKL5 protein. It affects a nucleotide within the consensus splice site.

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