ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1280_1281del (p.Val427fs)

dbSNP: rs1564494285
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV000721942 SCV000851985 pathogenic Hirschsprung disease, susceptibility to, 1; Sensorineural hearing loss disorder 2018-11-06 criteria provided, single submitter research The variant c.1280_1281delTG (p.Val427GlyfsTer42) in RET gene was observed in male proband with intestinal obstruction caused by total colonic and ileum aganglionosis and sensorineural hearing loss. The variant c.1280-1281delTG leads to premature stop-codon and was observed de novo. In summary, the c.1280_1281delTG variant meets ACMG criteria for pathogenic variants.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.