ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.536T>G (p.Ile179Ser)

gnomAD frequency: 0.00001  dbSNP: rs1031569954
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001194659 SCV001364396 likely pathogenic Alkaptonuria 2020-03-03 criteria provided, single submitter clinical testing Severe damage of the musculoskeletal system
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV001194659 SCV004100970 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:34504318 and PMID:33621656. It has been submitted to the HGD gene mutation database (, DB-ID: AKU_00231).

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.