ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.507_511delinsCACTGT (p.Ser170fs)

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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 RCV003022908 SCV003315324 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2022-03-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with WT1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Ser165Thrfs*34) in the WT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WT1 are known to be pathogenic (PMID: 15150775).

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