Submissions for variant NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del)

dbSNP: rs752708934

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mayo Clinic Laboratories, Mayo Clinic	RCV001509383	SCV001716059	uncertain significance	not provided	2019-04-07	criteria provided, single submitter	clinical testing
GeneDx	RCV001509383	SCV001987488	uncertain significance	not provided	2019-04-15	criteria provided, single submitter	clinical testing	In-frame deletion of 1 amino acid in a non-repeat region; 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
Invitae	RCV001865961	SCV002311082	uncertain significance	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2023-03-30	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1163912). This variant has not been reported in the literature in individuals affected with KCNT1-related conditions. This variant is present in population databases (rs752708934, gnomAD 0.009%). This variant, c.1809_1811del, results in the deletion of 1 amino acid(s) of the KCNT1 protein (p.Asn603del), but otherwise preserves the integrity of the reading frame.
Genome-Nilou Lab	RCV002271250	SCV002554760	uncertain significance	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271251	SCV002554761	uncertain significance	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002414234	SCV002714939	uncertain significance	Inborn genetic diseases	2019-04-05	criteria provided, single submitter	clinical testing	The c.1809_1811delCAA variant (also known as p.N603del) is located in coding exon 18 of the KCNT1 gene. This variant results from an in-frame CAA deletion at nucleotide positions 1809 to 1811. This results in the in-frame deletion of an asparagine at codon 603. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.