ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.682dup (p.Asp228fs)

dbSNP: rs1554945232
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541858 SCV000657636 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2017-05-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in WT1 are known to be pathogenic (PMID: 15150775). This variant has not been reported in the literature in individuals with a WT1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp223Glyfs*25) in the WT1 gene. It is expected to result in an absent or disrupted protein product.

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