ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) (rs74582884)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081107 SCV000113015 benign not specified 2014-06-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081107 SCV000247669 likely benign not specified 2016-03-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384756 SCV000471913 likely benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000661926 SCV000471914 benign Benign familial neonatal seizures 2 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001529220 SCV000513384 benign not provided 2018-05-25 criteria provided, single submitter clinical testing Published functional studies demonstrate no damaging effect, specifically, voltage clamp analysis revealed no significant reduction in potassium current as compared to wildtype (Neubauer et al., 2008); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28351718, 20981092, 18625963, 19344764, 23596459, 25784856, 28488083, 27875746, 29948376)
Invitae RCV000290815 SCV000555735 likely benign Benign familial neonatal seizures 2020-12-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661926 SCV000784250 likely benign Benign familial neonatal seizures 2 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718726 SCV000849590 benign Seizures 2018-12-29 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Subpopulation frequency in support of benign classification
Mendelics RCV000661926 SCV001137708 benign Benign familial neonatal seizures 2 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001257744 SCV001434556 likely benign Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing
GeneReviews RCV000661926 SCV000041085 pathogenic Benign familial neonatal seizures 2 2010-04-27 no assertion criteria provided curation Converted during submission to Pathogenic.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529220 SCV001742306 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529220 SCV001926256 likely benign not provided no assertion criteria provided 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.