Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801458 | SCV000941234 | uncertain significance | Developmental and epileptic encephalopathy, 26 | 2018-12-23 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KCNB1-related conditions. This sequence change replaces leucine with arginine at codon 246 of the KCNB1 protein (p.Leu246Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. |
Baylor Genetics | RCV000801458 | SCV001523344 | likely pathogenic | Developmental and epileptic encephalopathy, 26 | 2020-07-21 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |