Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003051052 | SCV003450201 | uncertain significance | Holoprosencephaly 5 | 2022-08-21 | 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ZIC2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 520 of the ZIC2 protein (p.His520Asp). |