Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001219269 | SCV001391197 | uncertain significance | Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome | 2023-08-24 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs746964440, gnomAD 0.007%). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 948083). This variant has not been reported in the literature in individuals affected with WT1-related conditions. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 208 of the WT1 protein (p.Ser208Asn). |
Baylor Genetics | RCV003469374 | SCV004206920 | uncertain significance | Drash syndrome | 2023-06-14 | criteria provided, single submitter | clinical testing |