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

gnomAD frequency: 0.00075  dbSNP: rs144766991

Total submissions: 6

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
Invitae	RCV001088258	SCV000563661	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-07	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.
PreventionGenetics, part of Exact Sciences	RCV003955023	SCV004772888	likely benign	KCNT1-related disorder	2019-09-04	criteria provided, single submitter	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).