ClinVar Miner

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

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Total submissions: 3
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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.

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