ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8932_8934TTC[1] (p.Phe2979del) (rs1358948221)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657874 SCV000779635 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing The c.8935_8937delTTC variant in the PKD1 gene has been reported previously as F2978del, in a woman and her children with autosomal dominant polycystic kidney disease (Bouba et al., 2001). The c.8935_8937delTTC variant results in an in-frame deletion and is predicted to cause loss of a Phenylalanine residue at codon 2979, denoted p.Phe2979del. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, the c.8935_8937delTTC variant is observed in 1/14950 (0.007%) alleles from individuals of European (non-Finnish) background, in large population cohorts (Lek et al., 2016). Therefore, we interpret c.8935_8937delTTC as a variant of uncertain significance.
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095616 SCV001251253 likely pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PM2, PM4, PP4, PP5

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.