ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met) (rs760315179)

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002583 SCV001160556 uncertain significance Polycystic kidney disease, adult type 2019-05-03 criteria provided, single submitter clinical testing The PKD1 c.7340C>T; p.Thr2447Met variant (rs760315179) is reported in the literature in an individual affected with autosomal dominant polycystic kidney disease (ADPKD), although this individual also carried several other missense variant which could be causative for disease (Bullich 2018). The p.Thr2447Met variant is found in the general population with an overall allele frequency of 0.01% (26/259570 alleles) in the Genome Aggregation Database. The threonine at codon 2447 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Thr2447Met variant is uncertain at this time. References: Bullich G et al. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. Kidney Int. 2018 Aug;94(2):363-371.

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.