ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.341C>T (p.Ala114Val)

dbSNP: rs1311557029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001860465 SCV002265610 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 109 of the WT1 protein (p.Ala109Val). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WT1 protein function. ClinVar contains an entry for this variant (Variation ID: 522546). This variant has not been reported in the literature in individuals affected with WT1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625689 SCV000746193 uncertain significance Nephrotic syndrome, type 4 2017-11-30 no assertion criteria provided clinical testing

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