ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) (rs587783154)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144831 SCV000191068 uncertain significance not provided 2015-09-25 criteria provided, single submitter clinical testing The c.1818 A>G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In-silico splice models are inconsistent in their predictions as to whether or not c.1818 A>G could create a cryptic acceptor site which may supplant the natural acceptor site and lead to abnormal gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Invitae RCV001078547 SCV001008399 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-12-31 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.