ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.76_80del (p.Gly26fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004017078 SCV004845805 uncertain significance Wilms tumor 1 2023-04-03 criteria provided, single submitter clinical testing This variant causes a 5-basepair deletion in exon 1 of the WT1 gene, and it is predicted to cause a frameshift at codon 21 and create a premature termination codon in exon 1 which may trigger nonsense-mediated decay. However, the WT1 gene has a protein isoform with translation initiation at p.Met69 that retains the functional domains for the WT protein (PMID: 2154335, 2154702). Therefore, the severity of the impact from this frameshift variant is unknown. This variant is also known as c.76_80del (p.Gly26Trpfs*29) based the reference transcripts, ENST00000452863 and NM_024426.6. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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