ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.604C>T (p.Pro202Ser)

dbSNP: rs1853435385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223884 SCV001396052 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2019-05-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with WT1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 197 of the WT1 protein (p.Pro197Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
GeneDx RCV004590243 SCV005078526 uncertain significance not provided 2023-10-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 8486616)

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