ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)

gnomAD frequency: 0.00128  dbSNP: rs138282349
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193382 SCV000247679 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000193382 SCV000334784 likely benign not specified 2015-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000471444 SCV000524869 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Invitae RCV001080555 SCV000563634 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311297 SCV000846325 likely benign Inborn genetic diseases 2021-07-27 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000193382 SCV000864308 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing BS1,BP4,BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Athena Diagnostics RCV000471444 SCV001144346 benign not provided 2019-06-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000471444 SCV004010897 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing KCNT1: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003917754 SCV004728425 likely benign KCNT1-related disorder 2020-07-28 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).
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656028 SCV000588304 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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