Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776576(A;G)

From SNPedia
Wilms tumor susceptibility (predicted)
Is agenotype
ofrs587776576
GeneWT1
Chromosome11
Position32,391,967
mentionedby
Magnitude7.5
ReputeBad
Geno Mag Summary
(A;G) 7.5 Wilms tumor susceptibility (predicted)
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Individuals with germline WT1 pathogenic variants are more likely to develop kidney tumors at an early age. The median age of diagnosis is between 3 and 4 years. Prognosis is favorable with a survival rate of over 90%.
  • The goal of surveillance in individuals carrying WT1 mutations is to detect tumors while they are low-stage and require less treatment compared to advanced-stage tumors.
  • Evaluation with abdominal ultrasound is recommended every 3-4 months, no less frequently than 3 times a year, until age five.
  • Note that the cost/benefit ratio of surveillance is not well documented.

The full ClinGen Actionability report about Wilms tumors can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.