ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.925A>G (p.Met309Val)

gnomAD frequency: 0.00004  dbSNP: rs754336808
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653777 SCV000775667 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 304 of the WT1 protein (p.Met304Val). This variant is present in population databases (rs754336808, gnomAD 0.009%). 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: 543116). 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. 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.
Sema4, Sema4 RCV002257917 SCV002530559 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-23 criteria provided, single submitter curation

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