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

gnomAD frequency: 0.00128  dbSNP: rs138282349

Total submissions: 10

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
Labcorp Genetics (formerly Invitae), Labcorp	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	2024-05-01	criteria provided, single submitter	clinical testing	KCNT1: BP4, BS1
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
PreventionGenetics, part of Exact Sciences	RCV003917754	SCV004728425	likely benign	KCNT1-related disorder	2020-07-28	no assertion criteria provided	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).