Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144795 | SCV000191019 | pathogenic | not provided | 2014-04-22 | criteria provided, single submitter | clinical testing | The c.2469delC mutation in the CDKL5 gene causes a frameshift starting with codon Glutamic acid 824, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Glu824ArgfsX13. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in INFANT-EPI panel(s). |
Prevention |
RCV003982901 | SCV004797247 | pathogenic | CDKL5-related condition | 2023-12-13 | criteria provided, single submitter | clinical testing | The CDKL5 c.2469delC variant is predicted to result in a frameshift and premature protein termination (p.Glu824Argfs*13). This variant was reported in an individual with epilepsy and/or neurodevelopmental disorders (Lindy et al 2018. PubMed ID: 29655203). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in CDKL5 are expected to be pathogenic. This variant is interpreted as pathogenic. |