Submissions for variant NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro)

gnomAD frequency: 0.00003  dbSNP: rs756570347

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001952035	SCV002189283	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-08-16	criteria provided, single submitter	clinical testing
New York Genome Center	RCV001952035	SCV002548602	uncertain significance	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2021-08-06	criteria provided, single submitter	clinical testing	The inherited heterozygous c.2050A>C (p.Thr684Pro) missense variant identified in the KCNT1 gene has not been reported in affected individuals in the literature. The variant has 0.00002628 allele frequency in the gnomAD(v3) database (4 out of 152202 heterozygous alleles, no homozygotes)suggesting it is not a common benign variant in the populations represented in that database. The affected residue is not evolutionarily conserved. In silico prediction tools predict a neutral effect on protein function (CADD score = 12.67, REVEL score = 0.0.019). Based on the available evidence, the inherited heterozygousc.2050A>C (p.Thr684Pro) missense variant identified in the KCNT1 gene is reported as a Variant of Uncertain Significance.
Genome-Nilou Lab	RCV002271307	SCV002554780	uncertain significance	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271308	SCV002554782	uncertain significance	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing