Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002260621 | SCV002540700 | benign | CDKL5 disorder | 2022-02-18 | reviewed by expert panel | curation | The allele frequency of the p.Ala486_Lys487del variant in CDKL5 is 0.03% in Latino/Admixed American sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Ala486_Lys487del variant is observed in 1 unaffected individual (RettBASE, PMID 22867051) (BS2_supporting). In summary, the p.Ala486_Lys487del variant in CDKL5 is classified as benign based on the ACMG/AMP criteria applied (BA1, BS2_supporting). |
Gene |
RCV000766721 | SCV000191009 | uncertain significance | not provided | 2016-06-19 | criteria provided, single submitter | clinical testing | The c.1455_1460delGGCCAA variant in the CDKL5 gene has been previously identified in a female patient with developmental delay, absent speech, seizures, and difficulty walking; however, it was classified by the authors as a variant of unknown significance because it was inherited from her unaffected mother and both the patient and her mother had normal X-inactivation studies (Maortua et al., 2012). The variant results in an in-frame deletion of two amino acids. Therefore, based on the currently available information, it is unclear whether c.1455_1460delGGCCAA is a pathogenic variant or a rare benign variant. |
Labcorp Genetics |
RCV001405417 | SCV001607338 | likely benign | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2025-01-23 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV002260621 | SCV005894722 | benign | CDKL5 disorder | 2024-09-13 | criteria provided, single submitter | curation | This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 3.0 (BA1). |
Rett |
RCV000169974 | SCV000222278 | likely benign | not specified | 2014-05-09 | no assertion criteria provided | curation | Found in unaffected female |
Prevention |
RCV004544327 | SCV004778327 | likely benign | CDKL5-related disorder | 2022-08-09 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |