ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)

dbSNP: rs760304811
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461389 SCV000545497 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2022-11-02 criteria provided, single submitter clinical testing This variant, c.405_407dup, results in the insertion of 1 amino acid(s) of the WT1 protein (p.Pro136dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760304811, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with WT1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000761054 SCV000890969 uncertain significance Nephroblastoma 2016-04-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256255 SCV002530543 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-07 criteria provided, single submitter curation
GeneDx RCV003231488 SCV003930208 uncertain significance not provided 2023-05-28 criteria provided, single submitter clinical testing In-frame duplication of 1 amino acid in a repeat region; Observed in a non-cancer control individual (Pritchard et al., 2018); This variant is associated with the following publications: (PMID: 8486616, 29641532)

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