ClinVar Miner

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

dbSNP: rs74582884
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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 Laboratory Services, Illumina RCV000384756 SCV000471913 likely benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000661926 SCV000471914 benign Seizures, benign familial neonatal, 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 neonatal seizures 2024-01-28 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661926 SCV000784250 likely benign Seizures, benign familial neonatal, 2 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316199 SCV000849590 benign Inborn genetic diseases 2018-12-29 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics RCV000661926 SCV001137708 benign Seizures, benign familial neonatal, 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
CeGaT Center for Human Genetics Tuebingen RCV001529220 SCV004163236 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KCNQ3: PM5, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000661926 SCV004564116 benign Seizures, benign familial neonatal, 2 2023-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003934846 SCV004756088 likely benign KCNQ3-related disorder 2019-10-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneReviews RCV000661926 SCV000041085 not provided Seizures, benign familial neonatal, 2 no assertion provided literature only Allele is present at 0.3% in non-Finnish Europeans and 0.2% in Latinos (gnomAD). Overrepresented (p=0.008) in idiopathic generalized epilepsies (8/455 persons). Detected in other complex phenotypes; in 4 persons with rolandic epilepsy and in 1 with rolandic epilepsy and moderate psychomotor delay; in 3 persons with autism spectrum disorders and no additional neurologic features
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529220 SCV001968012 likely benign not provided no assertion criteria provided clinical testing

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