Submissions for variant NM_020822.3(KCNT1):c.1104G>A (p.Ala368=)

gnomAD frequency: 0.00027  dbSNP: rs146032445

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174395	SCV000225687	likely benign	not specified	2014-07-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001704251	SCV000527369	likely benign	not provided	2020-11-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464114	SCV000563627	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2025-01-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269933	SCV002555303	benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269934	SCV002555304	benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426830	SCV002740342	likely benign	Inborn genetic diseases	2017-07-27	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001704251	SCV005879425	likely benign	not provided	2023-12-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907558	SCV004723977	likely benign	KCNT1-related disorder	2019-12-16	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).