ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup) (rs760304811)

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Total submissions: 2
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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; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2020-10-15 criteria provided, single submitter clinical testing This variant, c.405_407dupGCC, results in the insertion of 1 amino acid to the WT1 protein (p.Pro136dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760304811, ExAC 0.009%). This variant has not been reported in the literature in individuals with WT1-related disease. ClinVar contains an entry for this variant (Variation ID: 406690). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid 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 Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000761054 SCV000890969 uncertain significance Nephroblastoma 2016-04-27 criteria provided, single submitter clinical testing

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