ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs) (rs1555452400)

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
Centre for Genetic Disorders, Banaras Hindu University RCV000664259 SCV000676912 pathogenic Polycystic kidney disease, adult type 2017-12-30 no assertion criteria provided research NM_001009944:c.7925_7926delTA change in PKD1 is associated with polycystic kidney disease (OMIM# 173900) in an Indian family. Females and males were equally affected. This variation was not present in the unaffected family members and 100 control individuals. This change is a frame-shift mutation leading to termination of protein synthesis at 2660th amino acid (I2642Tfs*18). MutationTaster (http://www.mutationtaster.org/) predicts the variant to cause the disease.

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.