Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001202407 | SCV001373518 | uncertain significance | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-04-17 | 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. 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: 934074). This variant has been observed in at least one individual who was not affected with CDKL5-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with CDKL5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change falls in intron 18 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. |
| Gene |
RCV003329380 | SCV004036709 | uncertain significance | not provided | 2023-03-23 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29444904) |