ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)

gnomAD frequency: 0.00044  dbSNP: rs141360909
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665022 SCV000789075 uncertain significance Autosomal recessive polycystic kidney disease 2017-01-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727569 SCV000854807 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000665022 SCV000897292 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000665022 SCV001003588 likely benign Autosomal recessive polycystic kidney disease 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000665022 SCV001325165 uncertain significance Autosomal recessive polycystic kidney disease 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000727569 SCV002097541 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing Identified in a patient with autosomal recessive polycystic kidney disease in published literature, but no second PKHD1 variant was seen (Melchionda et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27225849)
Natera, Inc. RCV000665022 SCV001455257 likely benign Autosomal recessive polycystic kidney disease 2020-06-01 no assertion criteria provided 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.