Submissions for variant NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)

gnomAD frequency: 0.00002  dbSNP: rs146070496

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174154	SCV000225402	uncertain significance	not provided	2014-06-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000650653	SCV000772500	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2025-01-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000650653	SCV000897503	uncertain significance	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2018-10-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372085	SCV002685541	uncertain significance	Inborn genetic diseases	2018-02-14	criteria provided, single submitter	clinical testing	The p.E297K variant (also known as c.889G>A), located in coding exon 11 of the KCNT1 gene, results from a G to A substitution at nucleotide position 889. The glutamic acid at codon 297 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000174154	SCV004010894	uncertain significance	not provided	2023-06-01	criteria provided, single submitter	clinical testing