ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) (rs769518471)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499389 SCV000592991 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2015-11-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517672 SCV000612206 pathogenic not provided 2015-09-10 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664138 SCV000787590 uncertain significance Monogenic diabetes 2017-03-03 criteria provided, single submitter research ACMG Criteria:PP3 (2 predictors), BP4 (2 predictors), PVS1 (stopgain)
Invitae RCV000517672 SCV000931645 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg998*) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs769518471, ExAC 0.003%). This variant has been observed as homozygous or on the opposite chromosome (in trans) from a pathogenic variant in individuals affected with diffuse hyperinsulinism (PMID: 14692646, 17236890) and in heterozygosis in individuals with focal hyperinsulinism (PMID: 16357843, 20943781). This variant is also known as c.2995C>T, p.Arg999* in the literature. ClinVar contains an entry for this variant (Variation ID: 434053). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000499389 SCV001132112 pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2018-12-21 no assertion criteria provided clinical testing
Natera, Inc. RCV001277193 SCV001464091 pathogenic Hereditary hyperinsulinism 2020-09-16 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.