Submissions for variant NM_020822.3(KCNT1):c.2418G>A (p.Ser806=)

gnomAD frequency: 0.00027  dbSNP: rs142726010

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000429063	SCV000529657	likely benign	not specified	2016-07-13	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	RCV000862753	SCV001003301	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2023-12-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270384	SCV002555483	likely benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270385	SCV002555484	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002451022	SCV002736003	likely benign	Inborn genetic diseases	2018-03-12	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.
CeGaT Center for Human Genetics Tuebingen	RCV003430999	SCV004158983	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	KCNT1: BP4, BP7