ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter)

dbSNP: rs786204969
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003765058 SCV004571507 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-03-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189556). This premature translational stop signal has been observed in individual(s) with Rett syndrome (PMID: 22982301). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln459*) 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).
RettBASE RCV000169996 SCV000222302 pathogenic Atypical Rett syndrome 2014-03-13 no assertion criteria provided curation

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