ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.26C>G (p.Pro9Arg)

dbSNP: rs948132360
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689861 SCV000817530 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-03-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 4 of the WT1 protein (p.Pro4Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with gonadal failure (PMID: 30668521). ClinVar contains an entry for this variant (Variation ID: 569272). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. 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.

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