ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.753C>T (p.Gly251=)

dbSNP: rs1357020990
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 RCV001075890 SCV001241531 likely pathogenic Alkaptonuria 2019-12-19 criteria provided, single submitter research ACMG Guidelines, 2015 criteria: PS3, PM2, PM3, PP4
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV001075890 SCV004098704 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patients in PMID:33621656 and PMID: 34504318. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00221).

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.