ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln)

gnomAD frequency: 0.00001  dbSNP: rs764940559
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) RCV000729847 SCV000857539 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493317 SCV002787747 uncertain significance Polycystic kidney disease 4 2021-11-14 criteria provided, single submitter clinical testing
Invitae RCV002535134 SCV003461441 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 124 of the PKHD1 protein (p.Arg124Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 594537). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.