ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.149C>A (p.Ala50Asp)

gnomAD frequency: 0.00001  dbSNP: rs967658170
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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 RCV001215452 SCV001387198 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 45 of the WT1 protein (p.Ala45Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with WT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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