ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.375G>C (p.Trp125Cys)

gnomAD frequency: 0.00001  dbSNP: rs372825651
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236899 SCV001409640 uncertain significance Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2022-03-19 criteria provided, single submitter clinical testing 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. 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: 962951). This variant has not been reported in the literature in individuals affected with CDKL5-related conditions. This variant is present in population databases (rs372825651, gnomAD 0.003%), including at least one homozygous and/or hemizygous individual. This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 125 of the CDKL5 protein (p.Trp125Cys).

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