ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His)

gnomAD frequency: 0.00004  dbSNP: rs759083770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422464 SCV000535742 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing The R858H variant in the CDKL5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R858H variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R858H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, however, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R858H as a variant of uncertain significance.
Invitae RCV001203724 SCV001374900 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-04-28 criteria provided, single submitter clinical testing

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