Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001034199 | SCV001197530 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2019-02-13 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001270712 | SCV001451457 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2019-03-06 | criteria provided, single submitter | clinical testing | The KCNT1 c.3544A>C (p.Ile1182Leu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found through this search. This variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database. This frequency is based on one allele only in a region of good sequencing coverage, so the variant is presumed to be rare. The p.Ile1182Leu variant is not located in a known functional domain, and in silico algorithms differ in their predictions about the consequence of this variant. Missense variants are a known cause of KCNT1-related epilepsy, but considerable benign missense variation in this gene has been reported. Based on the limited evidence available, the p.Ile1182Leu variant is classified as a variant of uncertain significance for KCNT1-related epilepsy. |
Ambry Genetics | RCV002454258 | SCV002617294 | uncertain significance | Inborn genetic diseases | 2018-07-20 | criteria provided, single submitter | clinical testing | The p.I1182L variant (also known as c.3544A>C), located in coding exon 30 of the KCNT1 gene, results from an A to C substitution at nucleotide position 3544. The isoleucine at codon 1182 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |