ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys)

gnomAD frequency: 0.00004  dbSNP: rs201534300
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
Eurofins Ntd Llc (ga) RCV000591772 SCV000709017 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483655 SCV002786927 uncertain significance Polycystic kidney disease 4 2021-07-26 criteria provided, single submitter clinical testing
Invitae RCV003117369 SCV003785821 uncertain significance Autosomal recessive polycystic kidney disease 2022-04-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 3556 of the PKHD1 protein (p.Arg3556Cys). This variant is present in population databases (rs201534300, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of polycystic kidney disease (PMID: 15805161). ClinVar contains an entry for this variant (Variation ID: 502327). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PKHD1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.