Total submissions: 2
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. |
Gene |
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 |