Submissions for variant NM_020822.3(KCNT1):c.1511-4G>A (rs368480443)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001078880	SCV000563652	likely benign	Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5	2020-07-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000716685	SCV000847527	uncertain significance	Seizures	2016-08-11	criteria provided, single submitter	clinical testing	The c.1511-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 16 in the KCNT1 gene. This variant was previously reported in the SNPDatabase as rs368480443. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.03% (4/12452) total alleles studied, having been observed in 0.07% (3/4204) African American alleles and 0.01% (1/8248) European American alleles. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
GeneDx	RCV000828027	SCV000969703	likely benign	not provided	2018-06-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.