ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly)

gnomAD frequency: 0.00001  dbSNP: rs1218990219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV003448385 SCV004176228 likely benign CDKL5 disorder 2023-06-22 reviewed by expert panel curation The allele frequency of the c.2318A>G p.Glu773Gly variant in CDKL5 (NM_001323289.2) is 0.008% in the African/African American sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Glu773Gly variant is observed in at least 1 unaffected individual (GeneDx internal data) (BS2_Supporting). Computational prediction analysis tools are inconclusive for this variant (criteria not met). In summary, the c.2318A>G p.Glu773Gly variant in CDKL5 is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BS2_Supporting).
Institute of Human Genetics, University of Leipzig Medical Center RCV001262148 SCV001439916 uncertain significance Developmental and epileptic encephalopathy, 2 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001586097 SCV001813045 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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