ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser)

gnomAD frequency: 0.00003  dbSNP: rs1343246818
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
Counsyl RCV000664843 SCV000788861 uncertain significance Autosomal recessive polycystic kidney disease 2016-12-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578917 SCV001806276 uncertain significance Polycystic kidney disease 4 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV003231575 SCV003930215 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing Observed in the heterozygous state in an individual with childhood-onset nephromegaly and systemic hypertension in published literature (Furu et al., 2003); Reported in heterozygous parents of child with autosomal recessive polycystic kidney disease in unrelated families in published literature (Bitarafan et al., 2018); however, genetic testing was never performed on the affected children; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30595564, 12874454)

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.