Submissions for variant NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp)

gnomAD frequency: 0.00002  dbSNP: rs532620254

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175356	SCV000226829	uncertain significance	not provided	2014-09-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000529124	SCV000652921	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-11-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269936	SCV002554764	uncertain significance	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269937	SCV002554765	uncertain significance	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000175356	SCV005329766	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	KCNT1: BP4
Ambry Genetics	RCV004984719	SCV005613066	likely benign	Inborn genetic diseases	2024-08-20	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.