ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1244T>G (p.Met415Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333627 SCV004041392 uncertain significance Wilms tumor 1 2023-05-29 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004818328 SCV005439065 uncertain significance Nephrotic syndrome, type 4 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.1244T>Gp.Met415Arg variant in WT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Met at position 415 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Met415Arg in WT1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence Polyphen - Possibly Damaging, SIFT - Damaging, and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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