ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)

dbSNP: rs1048095
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Madras Diabetes Research Foundation RCV002051791 SCV002318406 likely pathogenic Neonatal diabetes mellitus criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000020291 SCV005394448 pathogenic Permanent neonatal diabetes mellitus 2024-09-13 criteria provided, single submitter clinical testing Variant summary: ABCC8 c.674T>C (p.Leu225Pro) results in a non-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 was absent in 251496 control chromosomes. c.674T>C has been reported in the literature at a heterozygous state in multiple individuals affected with Neonatal Diabetes Mellitus (example, Masia_2007, Garcin_2020, Gopi_2021). These data indicate that the variant is likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in about 4-fold over-activated current in Mg nucleotides in COS cells (Masia_2007). The following publications have been ascertained in the context of this evaluation (PMID: 32418263, 32893419, 17317760). ClinVar contains an entry for this variant (Variation ID: 21170). Based on the evidence outlined above, the variant was classified as pathogenic.
GeneReviews RCV000020291 SCV000040652 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.