ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala)

gnomAD frequency: 0.00010  dbSNP: rs766549097
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002145 SCV001160000 uncertain significance Polycystic kidney disease, adult type 2018-09-25 criteria provided, single submitter clinical testing The PKD1 c.2462T>C; p.Val821Ala variant (rs766549097), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found on five chromosomes in the Genome Aggregation Database, indicating it is not a common polymorphism. The valine at codon 821 is moderately conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Val821Ala variant is uncertain at this time.
Fulgent Genetics, Fulgent Genetics RCV001002145 SCV002792774 uncertain significance Polycystic kidney disease, adult type 2022-05-05 criteria provided, single submitter clinical testing
GeneDx RCV003322837 SCV004028269 uncertain significance not provided 2023-02-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.