ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.2129-1G>C

dbSNP: rs1563806466
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779583 SCV000916263 uncertain significance Neonatal diabetes mellitus with congenital hypothyroidism 2018-10-25 criteria provided, single submitter clinical testing The GLIS3 c.2129-1G>C variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database in a region of good sequence coverage so the variant is presumed to be rare. Due to the potential impact of splice (acceptor) variants and the lack of clarifying evidence, the c.2129-1G>C is classified as a variant of unknown significance but suspicious for pathogenicity for neonatal diabetes mellitus with congenital hypothyroidism. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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.