ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)

dbSNP: rs121907906
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685465 SCV000812947 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-05-30 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg430*) 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). This premature translational stop signal has been observed in individuals with Wilms tumor (PMID: 8975729, 20106868, 21508141, 23515051, 25818337). This variant is also known as p.Arg362*. ClinVar contains an entry for this variant (Variation ID: 3497). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000762840 SCV000893199 pathogenic Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001565696 SCV001789092 pathogenic not provided 2023-07-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in individuals with personal history consistent with pathogenic variants in this gene (Kaplinsky et al., 1996; Kohler et al., 2011; Lehnhardt et al., 2015); This variant is associated with the following publications: (PMID: 25525159, 21508141, 23515051, 20106868, 9090524, 25818337, 8411073, 34308104, 36496321, 8975729)
Genetics and Molecular Pathology, SA Pathology RCV000003671 SCV002556922 pathogenic Wilms tumor 1 2021-04-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001565696 SCV005090887 pathogenic not provided 2024-07-31 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795369 SCV005417660 pathogenic Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS2_Moderate+PS4_Supporting+PP4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000003671 SCV005689356 pathogenic Wilms tumor 1 2024-07-09 criteria provided, single submitter clinical testing The WT1 c.1252C>T (p.Arg418Ter) change is a nonsense variant that is predicted to cause premature protein truncation or absence of protein due to nonsense-mediated decay. This variant corresponds to NM_024426.6:c.1303C>T (p.Arg435*) in the MANE select transcript. This variant has been reported in an individual with bilateral Wilms tumor (internal data). This variant is also absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as pathogenic.
OMIM RCV000003670 SCV000023833 pathogenic Drash syndrome 1996-12-15 no assertion criteria provided literature only
OMIM RCV000003671 SCV000023834 pathogenic Wilms tumor 1 1996-12-15 no assertion criteria provided literature only

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