Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001932389 | SCV002130382 | uncertain significance | Nephronophthisis 14 | 2021-07-21 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with ZNF423-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 846 of the ZNF423 protein (p.Pro846Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. |