ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=)

dbSNP: rs1602289218
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800121 SCV000939821 uncertain significance Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-08-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDKL5-related conditions. ClinVar contains an entry for this variant (Variation ID: 645940). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This sequence change affects codon 671 of the CDKL5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CDKL5 protein.
GeneDx RCV002293481 SCV002586863 uncertain significance not provided 2023-11-11 criteria provided, single submitter clinical testing In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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