T568R (p.Thr568Arg) variant of CDH1 (Cadherin-1)
T568R (p.Thr568Arg) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CDH1-related diffuse gastric and lobular breast cancer syndrome. The record also includes published literature and structural context.
T568R (p.Thr568Arg) variant details
- p.Thr568Arg
- rs786202712
- ClinGen CA396465435
- ClinVar RCV000492379
- ClinVar RCV001326496
- Likely pathogenic
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- ClinVar: Likely pathogenic (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)