Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000435306 | SCV000536313 | uncertain significance | not provided | 2017-01-17 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the KCNB1 gene. The R575C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R575C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R575C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Labcorp Genetics |
RCV001305148 | SCV001494469 | likely benign | Developmental and epileptic encephalopathy, 26 | 2022-12-18 | criteria provided, single submitter | clinical testing |