Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210680 | SCV001382178 | uncertain significance | Developmental and epileptic encephalopathy, 9 | 2019-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with lysine at codon 115 of the PCDH19 protein (p.Ile115Lys). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and lysine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individuals with early-onset seizures (PMID: 26954813, 29377098). |