Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459964 | SCV000545494 | uncertain significance | Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome | 2023-08-07 | 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: 406687). This variant has not been reported in the literature in individuals affected with WT1-related conditions. This variant is present in population databases (rs150194429, gnomAD 0.002%). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 362 of the WT1 protein (p.Phe362Cys). |
Baylor Genetics | RCV003463879 | SCV004208924 | uncertain significance | Drash syndrome | 2023-10-08 | criteria provided, single submitter | clinical testing |