ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1218A>C (p.Arg406Ser)

dbSNP: rs1554939793
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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 RCV000653799 SCV000775689 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2019-11-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 401 of the WT1 protein (p.Arg401Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with WT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 543136). This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV002499127 SCV002791880 uncertain significance Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2021-09-08 criteria provided, single submitter clinical testing

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