ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.677C>A (p.Thr226Asn)

dbSNP: rs556804456
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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 RCV001318884 SCV001509604 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-06-15 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1019449). This variant has not been reported in the literature in individuals affected with WT1-related conditions. This variant is present in population databases (rs556804456, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 221 of the WT1 protein (p.Thr221Asn).

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