ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp)

dbSNP: rs1602230515
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816804 SCV000957329 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-07-26 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of CDKL5-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 18 of the CDKL5 protein (p.Val18Asp). ClinVar contains an entry for this variant (Variation ID: 659752). For these reasons, this variant has been classified as Pathogenic. 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.

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