Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053755 | SCV001218032 | uncertain significance | Severe myoclonic epilepsy in infancy | 2019-04-16 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with SNX27-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 405 of the SNX27 protein (p.Leu405Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |