Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468291 | SCV000563625 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318570 | SCV000849449 | uncertain significance | Inborn genetic diseases | 2017-05-03 | criteria provided, single submitter | clinical testing | The p.Q677R variant (also known as c.2030A>G), located in coding exon 19 of the KCNT1 gene, results from an A to G substitution at nucleotide position 2030. The glutamine at codon 677 is replaced by arginine, 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. |
Gene |
RCV000839523 | SCV000981424 | likely benign | not provided | 2017-11-13 | 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. |
Ce |
RCV000839523 | SCV002821990 | uncertain significance | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | KCNT1: PM2 |