ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter) (rs1602300816)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803646 SCV000943527 pathogenic Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2018-12-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CDKL5 gene (p.Gln929*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acids of the CDKL5 protein. The CDKL5 gene has multiple clinically relevant isoforms. The c.2785C>T variant occurs in alternate transcript NM_001323289.1, which corresponds to position c.2713+72C>T in NM_003159.2, the primary transcript listed in the Methods. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKL5-related conditions. This variant disrupts the C-terminus of the CDKL5 protein. Other variant(s) that disrupt this region (p.Arg943Asnfs*11) have been determined to be pathogenic (PMID: 29444904). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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