Submissions for variant NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg)

dbSNP: rs1060505000

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000468291	SCV000563625	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2023-12-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318570	SCV000849449	uncertain significance	Inborn genetic diseases	2017-05-03	criteria provided, single submitter	clinical testing	The p.Q677R variant (also known as c.2030A>G), located in coding exon 19 of the KCNT1 gene, results from an A to G substitution at nucleotide position 2030. The glutamine at codon 677 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx	RCV000839523	SCV000981424	likely benign	not provided	2017-11-13	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.
CeGaT Center for Human Genetics Tuebingen	RCV000839523	SCV002821990	uncertain significance	not provided	2022-10-01	criteria provided, single submitter	clinical testing	KCNT1: PM2