Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001507046 | SCV001712002 | likely pathogenic | CDKL5 disorder | 2021-03-26 | reviewed by expert panel | curation | The p.Asp193Gly variant in CDKL5 has been reported in at least 2 de novo occurrences (biological parentage unconfirmed) in affected individuals (PMID 23583054) (PM6_Strong). The p.Asp193Gly variant in CDKL5 is absent from gnomAD (PM2_Supporting). The variant has been reported to segregate in two informative meioses (PMID: 23583054) (PP1). Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3). The p.Asp193Gly variant in CDKL5 has been reported in an individual with a clinical phenotype suggestive of a CDKL5-associated disorder (PP4). In summary, the p.Asp193Gly variant in CDKL5 is classified as likely pathogenic for CDKL5-associated disorder based on the ACMG/AMP criteria (PM6_strong, PM2_supporting, PP1, PP3, PP4). |
Genetic Services Laboratory, |
RCV000145543 | SCV000192636 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001090792 | SCV001246514 | pathogenic | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Rett |
RCV000145543 | SCV000188392 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2014-03-13 | no assertion criteria provided | curation | Mutation also found in affected half-siblings, likely maternal germline mosaicism; mutation not seen in asymptomatic mother; highly conserved amino acid, in catalytic domain; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = pathogenic (C65) |