ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.197C>A (p.Ala66Glu)

dbSNP: rs1341675324
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001349022 SCV001543349 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-05-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 61 of the WT1 protein (p.Ala61Glu). This variant is not present in population databases (gnomAD no frequency). 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: 1044731). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Mendelics RCV002246328 SCV002516179 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462916 SCV004208917 uncertain significance Drash syndrome 2023-10-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005227 SCV004837524 uncertain significance Wilms tumor 1 2023-10-27 criteria provided, single submitter clinical testing This missense variant replaces alanine with glutamic acid at codon 61 of the WT1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with WT1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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