Submissions for variant NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)

gnomAD frequency: 0.00003  dbSNP: rs140367649

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000598125	SCV000709446	uncertain significance	not provided	2017-06-16	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768253	SCV000898779	uncertain significance	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2021-03-30	criteria provided, single submitter	clinical testing	KCNT1 NM_020822 exon 12 p.Thr370Thr (c.1110G>A): This variant has not been reported in the literature but is present in 4/17240 East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs140367649). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae	RCV000768253	SCV001681005	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2023-10-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000598125	SCV003917735	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	KCNT1: BP4, BP7