Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145533 | SCV000192622 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316922 | SCV000850544 | pathogenic | Inborn genetic diseases | 2017-03-21 | criteria provided, single submitter | clinical testing | The p.Q865* pathogenic mutation (also known as c.2593C>T), located in coding exon 17 of the CDKL5 gene, results from a C to T substitution at nucleotide position 2593. This changes the amino acid from a glutamine to a stop codon within coding exon 17. This mutation was detected as a de novo occurrence in a male individual with infantile spasms, various types of refractory seizures, as well as hypsarrhythmia and multifocal bilateral interictal epileptiform discharged on electroencephalogram (EEG) (Moseley BD et al. Pediatr. Neurol., 2012 Feb;46:101-5). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Rett |
RCV000145533 | SCV000188367 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2014-03-13 | no assertion criteria provided | curation | Truncation causing loss of C-terminus |