ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001089706 SCV001245190 likely pathogenic Early infantile epileptic encephalopathy 2 2020-02-14 criteria provided, single submitter clinical testing
Invitae RCV001301919 SCV001491104 uncertain significance Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2020-09-10 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 97 of the CDKL5 protein (p.Leu97Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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. ClinVar contains an entry for this variant (Variation ID: 870171). 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.

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