ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr)

gnomAD frequency: 0.00005  dbSNP: rs757107371
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517740 SCV000614487 uncertain significance not specified 2016-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527506 SCV003721090 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.1348C>A (p.P450T) alteration is located in exon 6 (coding exon 6) of the PKD1 gene. This alteration results from a C to A substitution at nucleotide position 1348, causing the proline (P) at amino acid position 450 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005398739 SCV006052491 uncertain significance Polycystic kidney disease, adult type 2024-11-14 criteria provided, single submitter clinical testing

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.