ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser)

dbSNP: rs1057516100
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508894 SCV001715329 pathogenic not provided 2019-09-09 criteria provided, single submitter clinical testing PS2, PM1, PM2, PM6, PP2, PP4
DASA RCV000678150 SCV002318953 likely pathogenic Developmental and epileptic encephalopathy, 7 2022-03-25 criteria provided, single submitter clinical testing The c.911T>C;p.(Phe304Ser) missense change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 369771; PMID: 23692823; PMID: 25959266)PS4_moderate. The variant is located in a mutational hot spot and/or critical and well-established functional domain (Ion_trans_2) - PM1. This variant is not present in population databases (rs1057516100- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br.) - PM2. The variant was assumed de novo, but without confirmation of paternity and maternity (PMID: 23692823; 25959266) - PM6. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is likely pathogenic
GeneDx RCV001508894 SCV005415113 pathogenic not provided 2024-05-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies demonstrate a damaging effect through a significant reduction in current amplitude and conductance-voltage relationship in KCNQ2 channels (PMID: 35857840); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the transmembrane segment S6 domain; This variant is associated with the following publications: (PMID: 28631195, 28867141, 31785789, 25959266, 23692823, 33057194, 35982159, 35857840)
GeneReviews RCV000678150 SCV000484593 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only EE (epileptic encephalopathy)

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.