Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV001093599 | SCV001245069 | likely pathogenic | Nephrotic syndrome, type 4 | 2020-01-24 | criteria provided, single submitter | clinical testing | A heterozygous c.485T>A (p.Val162Asp) variant in WT1 was detected in this individual. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.485T>A (p.Val162Asp) variant, found in exon 1/10, is predicted by in silico tools to have a deleterious effect on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. However, low-level parental mosaicism cannot be excluded. Based on the available evidence, the c.485T>A (p.Val162Asp) variant is classified as Likely Pathogenic. |