Submissions for variant NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)

gnomAD frequency: 0.00215  dbSNP: rs146810749

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175473	SCV000226955	likely benign	not specified	2014-07-15	criteria provided, single submitter	clinical testing
Invitae	RCV000229739	SCV000290483	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000175473	SCV000519782	benign	not specified	2016-08-22	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.
Ambry Genetics	RCV002312714	SCV000847153	benign	Inborn genetic diseases	2016-06-11	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000175473	SCV001476651	benign	not specified	2019-10-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001698988	SCV002498072	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	KCNT1: BP4, BP7, BS1
Genome-Nilou Lab	RCV002269938	SCV002555461	benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269939	SCV002555462	benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000175473	SCV001742695	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001698988	SCV001926491	likely benign	not provided		no assertion criteria provided	clinical testing