ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) (rs1423753702)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523951 SCV000617562 pathogenic not provided 2017-07-18 criteria provided, single submitter clinical testing The R369X variant in the WT1 gene has been reported in at least two individuals with Wilms tumor, one of whom had bilateral disease (Schumacher 1997). The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We interpret R369X as a pathogenic variant.
Invitae RCV000653779 SCV000775669 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2019-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg369*) 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 been reported in two siblings affected with Wilms tumors (PMID: 9108089). This variant is also known as p.Arg301* in the literature. ClinVar contains an entry for this variant (Variation ID: 449416). Loss-of-function variants in WT1 are known to be pathogenic (PMID: 15150775). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000709138 SCV000838429 pathogenic Wilms tumor 1 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000988515 SCV001138263 pathogenic Drash syndrome 2019-05-28 criteria provided, single submitter clinical testing

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