Submissions for variant NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=)

gnomAD frequency: 0.00185  dbSNP: rs141521745

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000345039	SCV000343532	benign	not specified	2016-08-12	criteria provided, single submitter	clinical testing
Invitae	RCV001080692	SCV000652961	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000345039	SCV000730845	benign	not specified	2017-03-28	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.
Athena Diagnostics Inc	RCV000712129	SCV000842551	benign	not provided	2018-02-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311409	SCV000846455	likely benign	Inborn genetic diseases	2016-05-02	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	RCV002270215	SCV002553742	benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270216	SCV002553743	benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003949930	SCV004767808	benign	KCNT1-related condition	2019-04-10	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).