ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.391C>T (p.Pro131Ser)

dbSNP: rs564706633
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988521 SCV001138269 uncertain significance Drash syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861942 SCV002216364 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2021-09-26 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 584764). This missense change has been observed in individual(s) with premature ovarian failure (PMID: 26358501). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces proline with serine at codon 126 of the WT1 protein (p.Pro126Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.
All of Us Research Program, National Institutes of Health RCV003999794 SCV004821045 uncertain significance Wilms tumor 1 2023-03-28 criteria provided, single submitter clinical testing

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