Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
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, |
RCV001262148 | SCV001439916 | uncertain significance | Developmental and epileptic encephalopathy, 2 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
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 |