ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) (rs121907906)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685465 SCV000812947 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2018-04-11 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with Wilms tumor with or without genitourinary anomalies (PMID: 20106868, 25818337, 21508141, 23515051, 8975729). This variant is also known as p.Arg362* in the literature. ClinVar contains an entry for this variant (Variation ID: 3497). Loss-of-function variants in WT1 are known to be pathogenic (PMID: 15150775). 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; Diffuse mesangial sclerosis; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2018-10-31 criteria provided, single submitter clinical testing
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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