ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter) (rs780009030)

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 RCV000578152 SCV000676918 pathogenic Polycystic kidney disease, adult type 2016-12-30 no assertion criteria provided research NM_001009944.2:c.10348G>T variant of PKD1 gene is presented by 52 years old female individual having positive family history of disease from India. Patient has enlarged kidneys with multiple cysts of variable sizes, liver cysts, gall bladder stone, flank pain, increased urea and creatinine level. This variant was not present in 100 control individuals. NM_001009944.2:c.10348G>T (E3450X) causes termination of protein synthesis at 3450 amino acid. MutationTaster (http://www.mutationtaster.org/) predicts this 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.