ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser)

dbSNP: rs2092686792
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
GeneDx RCV001758197 SCV001985755 uncertain significance not provided 2024-10-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 26150605)
Fulgent Genetics, Fulgent Genetics RCV005006008 SCV005640680 likely pathogenic Polycystic kidney disease, adult type 2024-04-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005006008 SCV006052510 uncertain significance Polycystic kidney disease, adult type 2025-01-02 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.