Submissions for variant NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln)

gnomAD frequency: 0.00014  dbSNP: rs561255614

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000395206	SCV000329374	likely benign	not provided	2021-05-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32883383, 30821013, 29870100, 30662450, 26740507, 25339316, 31872048)
Invitae	RCV000559220	SCV000652949	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311398	SCV000846845	likely benign	Inborn genetic diseases	2018-02-14	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.
Genome-Nilou Lab	RCV002270197	SCV002553673	likely benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270198	SCV002553674	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000559220	SCV002806311	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2021-10-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000395206	SCV004158994	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	KCNT1: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003977722	SCV004793906	likely benign	KCNT1-related condition	2023-08-24	criteria provided, single submitter	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).