ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) (rs1266053680)

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
Athena Diagnostics Inc RCV000991472 SCV001142889 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing
Invitae RCV000991472 SCV001400597 likely pathogenic not provided 2019-10-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1262 of the ABCC8 protein (p.Ala1262Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with atypical familial hyperinsulinemia, being paternally inherited (PMID: 26092864, 21981106). This variant is also known as A1263T in the literature. This variant has been reported to affect ABCC8 protein function (PMID: 26092864). 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.

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.