Submissions for variant NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)

gnomAD frequency: 0.00035  dbSNP: rs147551342

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001081817	SCV000290495	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-27	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000425920	SCV000511466	uncertain significance	not provided	2016-07-11	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
GeneDx	RCV000444916	SCV000523702	likely benign	not specified	2017-10-12	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	RCV002313959	SCV000848806	likely benign	Inborn genetic diseases	2019-01-07	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.
Eurofins Ntd Llc (ga)	RCV000425920	SCV000856258	uncertain significance	not provided	2017-08-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000425920	SCV004010893	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	KCNT1: BP4, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000425920	SCV004562105	likely benign	not provided	2023-09-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939883	SCV004759281	likely benign	KCNT1-related condition	2020-02-03	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).