ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1316G>A (p.Arg439His) (rs121907901)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484493 SCV000568577 pathogenic not provided 2017-02-24 criteria provided, single submitter clinical testing The R434H variant in the WT1 gene has been reported previously (reported as R366H due to alternate nomenclature) in multiple individuals with Denys Drash syndrome and at least one patient with apparently isolated diffuse mesangial sclerosis (Hillen et al., 2016; Pelletier et al., 1991; Hahn et al., 2006). The R434H variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R434H variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. Functional studies showed that R434H was associated with a decrease in DNA binding affinity when compared to the wild-type protein (Borel et al., 1996). We interpret R434H as a pathogenic variant.
OMIM RCV000003659 SCV000023822 pathogenic Drash syndrome 2008-02-15 no assertion criteria provided literature only
Human Genetics Disease in Children – Taif University,Taif University RCV000003659 SCV000265969 pathogenic Drash syndrome 2016-01-01 no assertion criteria provided clinical testing

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