Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071726 | SCV001237045 | uncertain significance | Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome | 2023-11-08 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 4 of the WT1 protein (p.Pro4Leu). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with WT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 864517). 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. 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. |
Fulgent Genetics, |
RCV002489716 | SCV002797075 | uncertain significance | Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome | 2022-02-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736969 | SCV004565166 | uncertain significance | not provided | 2022-12-19 | criteria provided, single submitter | clinical testing | The WT1 c.26C>T; p.Pro9Leu variant (rs948132360), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 864517). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The proline at codon 9 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.091). Due to limited information, the clinical significance of this variant is uncertain at this time. |