ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1218-18T>G

gnomAD frequency: 0.00001  dbSNP: rs908502131
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522224 SCV000617198 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNQ2 gene. The c.1218-18 T>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). Several in-silico splice prediction models predict that c.1218-18 T>G reduces the quality of the natural splice acceptor site in intron 10, which may lead to abnormal genesplicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is apathogenic variant or a rare benign variant.
Invitae RCV002527571 SCV003027043 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000522224 SCV003811977 uncertain significance not provided 2022-03-30 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.