Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001817706 | SCV002066924 | uncertain significance | not specified | 2017-11-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001869782 | SCV002160592 | uncertain significance | Holoprosencephaly 5 | 2021-09-15 | criteria provided, single submitter | clinical testing | 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 C15"). This variant has not been reported in the literature in individuals affected with ZIC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 247 of the ZIC2 protein (p.Met247Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. |