Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552982 | SCV000657617 | uncertain significance | Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome | 2023-09-15 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 476694). This variant has not been reported in the literature in individuals affected with WT1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 62 of the WT1 protein (p.Ser62Cys). |
Sema4, |
RCV002258969 | SCV002530532 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-02 | criteria provided, single submitter | curation | |
Baylor Genetics | RCV003459255 | SCV004206917 | uncertain significance | Drash syndrome | 2023-07-05 | criteria provided, single submitter | clinical testing |