Submissions for variant NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala)

gnomAD frequency: 0.00472  dbSNP: rs146292575

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000117372	SCV000224629	benign	not specified	2014-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084316	SCV000290496	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117372	SCV000313675	benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000436894	SCV000510946	likely benign	not provided	2016-06-21	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000117372	SCV000521960	benign	not specified	2016-02-08	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.
Ambry Genetics	RCV002312163	SCV000846139	benign	Inborn genetic diseases	2016-05-17	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.
Athena Diagnostics	RCV000436894	SCV001144349	benign	not provided	2018-09-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269842	SCV002554860	likely benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269843	SCV002554861	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000436894	SCV005228571	likely benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV000436894	SCV005330147	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	KCNT1: BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000117372	SCV000151555	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.