ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)

dbSNP: rs1555955290
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000578482 SCV002523175 likely pathogenic Developmental and epileptic encephalopathy, 2 2022-01-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000578482 SCV003835118 likely pathogenic Developmental and epileptic encephalopathy, 2 2022-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766891 SCV004571077 likely pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-09-07 criteria provided, single submitter clinical testing 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 on the NM_003159.2 transcript. This variant is also known as NM_001323289.1:c.2828_2829del (p.Arg943Asnfs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acids of the CDKL5 protein on this alternate transcript. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of CDKL5-related conditions (PMID: 29444904). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 441534). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
ITMI RCV000578482 SCV000599451 pathogenic Developmental and epileptic encephalopathy, 2 2017-09-05 no assertion criteria provided research

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