ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.386C>A (p.Pro129Gln)

gnomAD frequency: 0.00001  dbSNP: rs745435848
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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 RCV000791797 SCV000931060 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-07-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 639084). 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 disruptive. 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. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 124 of the WT1 protein (p.Pro124Gln).
Fulgent Genetics, Fulgent Genetics RCV002487635 SCV002785304 uncertain significance Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2021-08-30 criteria provided, single submitter clinical testing

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