ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1253G>T (p.Arg418Met)

gnomAD frequency: 0.00001  dbSNP: rs373176048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213739 SCV001385388 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 413 of the WT1 protein (p.Arg413Met). This variant is present in population databases (rs373176048, gnomAD 0.002%). This missense change has been observed in individual(s) with infertility (PMID: 28334862). ClinVar contains an entry for this variant (Variation ID: 943533). 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. Experimental studies have shown that this missense change affects WT1 function (PMID: 28334862). 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.
Fulgent Genetics, Fulgent Genetics RCV002497730 SCV002806883 uncertain significance Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2022-01-31 criteria provided, single submitter clinical testing
GeneDx RCV004761987 SCV005369198 uncertain significance not provided 2023-07-14 criteria provided, single submitter clinical testing 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; Published functional studies suggest a damaging effect: decreased DNA binding to Prss29 (Nathan et al., 2017); This variant is associated with the following publications: (PMID: 17361230, 28334862)

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