Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001377140 | SCV001574381 | likely pathogenic | Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome | 2020-08-19 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 been observed in individual(s) with WT1-related disorders (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 438653). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 166 of the WT1 protein (p.Gly166Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000505662 | SCV000599806 | uncertain significance | Nephrotic syndrome, type 4 | 2017-04-20 | no assertion criteria provided | clinical testing |