Submissions for variant NM_020822.3(KCNT1):c.2376C>T (p.Asp792=)

gnomAD frequency: 0.00351  dbSNP: rs149028586

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176227	SCV000227844	benign	not specified	2015-05-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000176227	SCV000313664	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000176227	SCV000523800	benign	not specified	2016-03-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000459547	SCV000563647	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314617	SCV000847422	likely benign	Inborn genetic diseases	2016-03-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Athena Diagnostics Inc	RCV000176227	SCV001476653	benign	not specified	2019-12-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269943	SCV002555479	benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269944	SCV002555480	benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001701778	SCV004158982	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	KCNT1: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701778	SCV001927927	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701778	SCV001963878	likely benign	not provided		no assertion criteria provided	clinical testing