ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs)

dbSNP: rs587783123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

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