ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)

gnomAD frequency: 0.00006  dbSNP: rs144106341
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595130 SCV000709605 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing
Invitae RCV001085949 SCV001007556 likely benign Autosomal recessive polycystic kidney disease 2024-01-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001085949 SCV001325039 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.
PreventionGenetics, part of Exact Sciences RCV003420049 SCV004107820 uncertain significance PKHD1-related disorder 2022-11-09 criteria provided, single submitter clinical testing The PKHD1 c.8335T>G variant is predicted to result in the amino acid substitution p.Phe2779Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.23% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51656139-A-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001085949 SCV001455245 uncertain significance Autosomal recessive polycystic kidney disease 2017-05-06 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.