ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met)

gnomAD frequency: 0.00004  dbSNP: rs564240823
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728084 SCV000855616 uncertain significance not provided 2017-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000728084 SCV001997122 uncertain significance not provided 2019-12-18 criteria provided, single submitter clinical testing Observed in a patient with infantile cholestasis and congenital hepatic fibrosis in published literature (Herbst et al., 2015); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25771912)
Fulgent Genetics, Fulgent Genetics RCV002499343 SCV002791114 uncertain significance Polycystic kidney disease 4 2022-03-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918185 SCV004735433 uncertain significance PKHD1-related condition 2023-12-27 criteria provided, single submitter clinical testing The PKHD1 c.2330C>T variant is predicted to result in the amino acid substitution p.Thr777Met. This variant has been reported in a patient with cholestasis, but the significance is unknown (Herbst et al. 2015. PubMed ID: 25771912). This variant is reported in 0.016% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.