ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1127T>C (p.Val376Ala)

dbSNP: rs1180529775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341457 SCV001535334 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-08-04 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1038185). This variant has not been reported in the literature in individuals affected with WT1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 371 of the WT1 protein (p.Val371Ala).
Fulgent Genetics, Fulgent Genetics RCV002486378 SCV002778280 uncertain significance Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2022-03-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469571 SCV004206933 uncertain significance Drash syndrome 2023-05-11 criteria provided, single submitter clinical testing

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