ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.307C>T (p.His103Tyr)

gnomAD frequency: 0.00004  dbSNP: rs751209734
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
Counsyl RCV000669935 SCV000794736 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2017-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702292 SCV005202417 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.307C>T (p.His103Tyr) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 251352 control chromosomes, predominantly at a frequency of 0.00049 within the East Asian subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.307C>T has been reported in the literature in individuals affected with Diabetes and Pulmonary arterial hypertension (Kwak_2016, Zhu_2019, Lee_2021). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 27810688, 34135026, 31727138). ClinVar contains an entry for this variant (Variation ID: 554321). Based on the evidence outlined above, the variant was classified as uncertain significance.

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.