Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000709136 | SCV000838427 | uncertain significance | Wilms tumor 1 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
| Mendelics | RCV000988513 | SCV001138260 | uncertain significance | Drash syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001327893 | SCV001518986 | uncertain significance | Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome | 2020-03-14 | 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with WT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 584756). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 509 of the WT1 protein (p.Asn509Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. |