ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.638G>A (p.Ser213Asn)

dbSNP: rs746964440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219269 SCV001391197 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-08-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs746964440, gnomAD 0.007%). 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: 948083). This variant has not been reported in the literature in individuals affected with WT1-related conditions. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 208 of the WT1 protein (p.Ser208Asn).
Baylor Genetics RCV003469374 SCV004206920 uncertain significance Drash syndrome 2023-06-14 criteria provided, single submitter clinical testing

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