Submissions for variant NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg)

gnomAD frequency: 0.00032  dbSNP: rs200173000

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000431250	SCV000513387	benign	not specified	2016-11-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000431250	SCV000703137	likely benign	not specified	2016-11-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081134	SCV000772532	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314148	SCV000847407	likely benign	Inborn genetic diseases	2019-03-12	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.
CeGaT Center for Human Genetics Tuebingen	RCV000650685	SCV001155839	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	KCNT1: BS2