ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)

dbSNP: rs267608437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145527 SCV000192616 pathogenic Developmental and epileptic encephalopathy, 2 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001849962 SCV002161391 uncertain significance Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2021-12-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 67 of the CDKL5 protein (p.Leu67Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDKL5-related conditions. ClinVar contains an entry for this variant (Variation ID: 143791). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CDKL5 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
RettBASE RCV000133338 SCV000188347 likely pathogenic Rett syndrome 2016-04-26 no assertion criteria provided research

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