Submissions for variant NM_020822.3(KCNT1):c.885G>A (p.Ala295=)

gnomAD frequency: 0.00036  dbSNP: rs142756900

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724073	SCV000225403	uncertain significance	not provided	2014-10-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000724073	SCV000523094	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000174155	SCV000613896	likely benign	not specified	2017-02-23	criteria provided, single submitter	clinical testing
Invitae	RCV001082687	SCV000652967	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313030	SCV000847511	likely benign	Inborn genetic diseases	2016-08-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV000724073	SCV004158972	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	KCNT1: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003937557	SCV004760187	likely benign	KCNT1-related condition	2019-10-11	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).