ClinVar Miner

Submissions for variant NM_000207.3(INS):c.143T>G (p.Phe48Cys)

dbSNP: rs80356668
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
Molecular Genetics, Madras Diabetes Research Foundation RCV002051785 SCV002318417 likely pathogenic Neonatal diabetes mellitus criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001089456 SCV004174220 likely risk allele Diabetes mellitus, permanent neonatal 4 criteria provided, single submitter research Potent mutations in the INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, mutations in this gene can cause beta cell destruction. Sufficient evidence is found to confer the association of this particular variant rs80356668 with permanent neonatal diabetes mellitus.
OMIM RCV001089456 SCV000034570 pathogenic Diabetes mellitus, permanent neonatal 4 2008-04-01 no assertion criteria provided literature only
GeneReviews RCV000014321 SCV000040543 not provided Permanent neonatal diabetes mellitus no assertion provided literature only
UniProtKB/Swiss-Prot RCV000014321 SCV000091152 not provided Permanent neonatal diabetes mellitus no assertion provided not provided

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.