PVS1
This variant is a synonymous change, WT1 c.1107A>G (p.Arg369=), and does not fall within the generic PVS1 null-variant categories for nonsense, frameshift, or canonical +/-1 or 2 splice-site variants.
PS2
No confirmed de novo data with established maternity and paternity were identified for this variant.
PS3
No well-established functional studies demonstrating a damaging effect of this specific variant were identified.
PS4
Available evidence does not show that this variant is enriched in individuals with WT1-related germline disease compared with controls.
PM1
This variant does not lie in a statistically significant hotspot, so available evidence does not support location in a critical mutational hot spot or well-established functional domain without benign variation.
PM2
This variant is not absent from population databases.
PM3
No data were identified showing this variant in trans with a pathogenic variant in a recessive disorder.
PM6
No assumed de novo occurrence data were identified for this variant.
PP1
No segregation data were identified showing this variant tracking with disease in affected family members.
PP3
Available computational evidence does not support a deleterious effect.
PP4
No individual-level phenotype data were identified to show a WT1-related clinical presentation that is highly specific for disease caused by this variant.
PP5
An external clinical database classification was identified, but this criterion was not used as stand-alone evidence for pathogenicity.
