ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile)

gnomAD frequency: 0.00005  dbSNP: rs771882862
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548320 SCV001768208 uncertain significance not provided 2019-05-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002495877 SCV002788994 uncertain significance Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 2022-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568299 SCV003750450 uncertain significance Inborn genetic diseases 2023-01-22 criteria provided, single submitter clinical testing The p.V1025I variant (also known as c.3073G>A), located in coding exon 25 of the ABCC8 gene, results from a G to A substitution at nucleotide position 3073. The valine at codon 1025 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826394 SCV002075649 uncertain significance Hereditary hyperinsulinism 2020-12-23 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004734229 SCV005345973 uncertain significance ABCC8-related disorder 2024-09-11 no assertion criteria provided clinical testing The ABCC8 c.3073G>A variant is predicted to result in the amino acid substitution p.Val1025Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.