ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)

dbSNP: rs1555458032
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505957 SCV000604806 pathogenic not specified 2017-03-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001535870 SCV001752489 pathogenic Polycystic kidney disease, adult type 2021-06-30 criteria provided, single submitter clinical testing
GeneDx RCV002274047 SCV002559663 pathogenic not provided 2023-08-18 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation and nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22508176, 31740684, 27499327)
Ambry Genetics RCV002527367 SCV003582468 pathogenic Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.2152C>T (p.Q718*) alteration, located in exon 11 (coding exon 11) of the PKD1 gene, consists of a C to T substitution at nucleotide position 2152. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 718. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This mutation has been reported in several individuals with autosomal dominant polycystic kidney disease (Audrézet, 2012; Carrera, 2016; Kim, 2019). Based on the available evidence, this alteration is classified as pathogenic.

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.