Submissions for variant NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His)

gnomAD frequency: 0.00005  dbSNP: rs368339692

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000550925	SCV000652954	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001692185	SCV001915413	benign	not provided	2020-05-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270660	SCV002553694	benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270661	SCV002553695	benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002456230	SCV002616999	likely benign	Inborn genetic diseases	2018-10-11	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.
PreventionGenetics, part of Exact Sciences	RCV003935505	SCV004760523	likely benign	KCNT1-related disorder	2022-03-21	no assertion criteria provided	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).