ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.710C>T (p.Pro237Leu)

gnomAD frequency: 0.00001  dbSNP: rs760776653
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792961 SCV000932292 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-09-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 640025). This variant has not been reported in the literature in individuals affected with WT1-related conditions. This variant is present in population databases (rs760776653, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 232 of the WT1 protein (p.Pro232Leu). 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.
GeneDx RCV002466583 SCV002762628 uncertain significance not provided 2022-12-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 8486616)
PreventionGenetics, part of Exact Sciences RCV003965588 SCV004785561 uncertain significance WT1-related condition 2024-01-26 criteria provided, single submitter clinical testing The WT1 c.695C>T variant is predicted to result in the amino acid substitution p.Pro232Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 2 of ~251,000 alleles in gnomAD. It is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/566026/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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