ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.897del (p.Leu299fs)

dbSNP: rs1852720329
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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 RCV001231379 SCV001403899 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2019-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu294Phefs*4) in the WT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with WT1-related conditions. Loss-of-function variants in WT1 are known to be pathogenic (PMID: 15150775). For these reasons, this variant has been classified as Pathogenic.

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