Submissions for variant NM_020822.3(KCNT1):c.942C>T (p.Thr314=)

gnomAD frequency: 0.00075  dbSNP: rs144766991

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000712130	SCV000225401	uncertain significance	not provided	2015-04-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000712130	SCV000525358	likely benign	not provided	2020-03-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088258	SCV000563661	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2025-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712130	SCV000842552	benign	not provided	2018-05-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372084	SCV002687158	benign	Inborn genetic diseases	2020-10-02	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen	RCV000712130	SCV005433486	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	KCNT1: BP4, BP7, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000712130	SCV005875823	benign	not provided	2024-09-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955023	SCV004772888	likely benign	KCNT1-related disorder	2019-09-04	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).