ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr)

dbSNP: rs193929369
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002243634 SCV002515422 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs193929369) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002243635 SCV002515423 uncertain significance Transitory neonatal diabetes mellitus criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs193929369) in neonatal diabetes yet.
OMIM RCV001089461 SCV000029897 pathogenic Diabetes mellitus, permanent neonatal 3 2007-08-01 no assertion criteria provided literature only
GeneReviews RCV000009679 SCV000040644 not provided Permanent neonatal diabetes mellitus no assertion provided literature only

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.