ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter)

dbSNP: rs267608663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago 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.
RettBASE RCV000145533 SCV000188367 pathogenic Developmental and epileptic encephalopathy, 2 2014-03-13 no assertion criteria provided curation Truncation causing loss of C-terminus

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