ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1388G>C (p.Arg463Pro)

dbSNP: rs1037084691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory Oncology Unit, Dr.B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences RCV000766274 SCV000897759 uncertain significance Acute myeloid leukemia 2018-12-06 criteria provided, single submitter research
3billion RCV003152731 SCV003842087 uncertain significance Nephrotic syndrome, type 4 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.56; 3Cnet: 0.76). A different missense change at the same codon (p.Arg463Gln) has been reported to be associated with WT1 related disorder (ClinVar ID: VCV000599100 / PMID: 25145932 / 3billion dataset). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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