Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001000990 | SCV001158095 | likely pathogenic | not specified | 2019-01-04 | criteria provided, single submitter | clinical testing | This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 554 is highly conserved and computational analyses (PolyPhen-2: possibly damaging, SIFT: damaging) predict an effect of this variant on protein structure/function. Missense variants in KCNT1 resulting in a gain-of-function have been proposed to be the mechanism of disease (McTague 2018). Based on the available information, the p.Gly554Glu variant is considered to be likely pathogenic. |