ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.261C>A (p.Ala87=)

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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 RCV002595334 SCV003495062 likely benign Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2022-10-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550417 SCV004118698 uncertain significance WT1-related disorder 2022-08-31 criteria provided, single submitter clinical testing The WT1 c.246C>A variant is not predicted to result in an amino acid change (p.=). This variant is predicted to introduce a cryptic splice site in exon 1 based on splicing prediction programs (Alamut Visual Plus v.1.6.1). However, computer prediction programs are not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-32456646-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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