ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.790C>T (p.Gln264Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003154594 SCV003843106 uncertain significance Wilms tumor 1 2022-10-11 criteria provided, single submitter clinical testing The WT1 c.775C>T (p.Gln259Ter) change is a nonsense variant that is predicted to cause premature protein truncation and loss of normal protein function. This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). It was identified in an individual affected with Wilms tumor where the variant was in a region with copy neutral loss-of-heterozygosity in the tumor (internal data). In summary, this variant meets criteria to be classified as pathogenic.
Swedish National ChiCaP Initative, Genomic Medicine Sweden RCV004798034 SCV005419219 pathogenic WT1-related disorder 2024-05-01 criteria provided, single submitter clinical testing

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