Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144794 | SCV000191018 | pathogenic | not provided | 2013-02-26 | criteria provided, single submitter | clinical testing | The c.2360_2363delAGAA mutation in the CDKL5 gene causes a frameshift starting with codon Lysine 787, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Lys787ArgfsX15. 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,EPILEPSY panel(s). |
Invitae | RCV001386312 | SCV001586500 | pathogenic | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2022-04-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys787Argfs*15) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with epilepsy and/or neurodevelopmental disorder (PMID: 29655203). ClinVar contains an entry for this variant (Variation ID: 156651). For these reasons, this variant has been classified as Pathogenic. |