Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002281143 | SCV002569950 | benign | CDKL5 disorder | 2022-09-01 | reviewed by expert panel | curation | The allele frequency of the p.Leu97= variant in CDKL5 is 0.011% in African sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Leu97= variant is observed in at least 2 unaffected individuals (internal database) (BS2). The silent p.Leu97= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). The p.Leu97= variant in CDKL5 has been reported apparently homozygous in an individual with infantile epileptic encephalopathy (PMID 28454995); no criteria were applied for this case. In summary, the p.Leu97= variant in CDKL5 is classified as benign based on the ACMG/AMP criteria (BS1, BS2, BP7). |
Invitae | RCV000925502 | SCV001071040 | likely benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225768 | SCV002504358 | likely benign | not provided | 2020-09-22 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Biochemical Molecular Genetic Laboratory, |
RCV000985112 | SCV001133083 | likely pathogenic | Developmental and epileptic encephalopathy, 2 | 2019-09-26 | no assertion criteria provided | clinical testing |