Submissions for variant NM_020822.3(KCNT1):c.1134C>T (p.Val378=)

gnomAD frequency: 0.00088  dbSNP: rs149960236

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195201	SCV000247672	benign	not specified	2016-11-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001537823	SCV000526031	likely benign	not provided	2020-06-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000469821	SCV000563654	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314823	SCV000848374	likely benign	Inborn genetic diseases	2016-07-07	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.
Genome-Nilou Lab	RCV002269963	SCV002555310	benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269964	SCV002555311	benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001537823	SCV004010895	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	KCNT1: BP4, BP7, BS1
Athena Diagnostics	RCV000195201	SCV005620914	benign	not specified	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001537823	SCV001928680	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001537823	SCV001969151	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907691	SCV004724806	likely benign	KCNT1-related disorder	2019-06-20	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).