ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1265G>T (p.Gly422Val)

dbSNP: rs869025561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208133 SCV000264318 likely pathogenic Familial idiopathic steroid-resistant nephrotic syndrome 2015-10-22 criteria provided, single submitter clinical testing
GeneDx RCV003223623 SCV003919503 likely pathogenic not provided 2022-10-21 criteria provided, single submitter clinical testing Identified in a patient with nephrotic syndrome in published literature; additional clinical information was not provided (Nair et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 30293248, 17361230)

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