ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2116+1G>T

dbSNP: rs1554924540
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
Counsyl RCV000672727 SCV000797862 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2018-02-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816679 SCV002065883 likely pathogenic not provided 2021-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001816679 SCV002249680 likely pathogenic not provided 2023-06-23 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 15 of the ABCC8 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 556689). Disruption of this splice site has been observed in individual(s) with autosomal recessive focal hyperinsulinism (PMID: 14692646, 30386300).
Baylor Genetics RCV003465516 SCV004205556 pathogenic Type 2 diabetes mellitus 2021-12-20 criteria provided, single submitter 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.