Submissions for variant NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu)

gnomAD frequency: 0.00006  dbSNP: rs147654995

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000594843	SCV000707712	uncertain significance	not provided	2017-05-02	criteria provided, single submitter	clinical testing
Invitae	RCV001215111	SCV001386835	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2023-02-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000594843	SCV001987999	uncertain significance	not provided	2019-05-31	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab	RCV002270721	SCV002554844	uncertain significance	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270722	SCV002554845	uncertain significance	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001215111	SCV002782187	uncertain significance	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2021-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002532586	SCV003611460	uncertain significance	Inborn genetic diseases	2022-03-23	criteria provided, single submitter	clinical testing	The c.3575C>T (p.P1192L) alteration is located in exon 30 (coding exon 30) of the KCNT1 gene. This alteration results from a C to T substitution at nucleotide position 3575, causing the proline (P) at amino acid position 1192 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.