ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.653del (p.Arg218fs)

dbSNP: rs1565000973
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692823 SCV000820666 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2018-05-15 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 WT1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg213Profs*73) in the WT1 gene. It is expected to result in an absent or disrupted protein product.

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