ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)

dbSNP: rs267608418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515935 SCV003444503 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-08-19 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 143828). This missense change has been observed in individual(s) with CDKL5-related conditions (PMID: 20397747, 30776697). 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 glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 20 of the CDKL5 protein (p.Gly20Arg).
RettBASE RCV000133379 SCV000188394 likely pathogenic Developmental and epileptic encephalopathy, 2 2014-03-13 no assertion criteria provided curation In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

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