ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.1126C>T (p.Pro376Ser)

gnomAD frequency: 0.00811  dbSNP: rs76342955
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
Illumina Laboratory Services, Illumina RCV000406033 SCV000480283 benign Neonatal diabetes mellitus with congenital hypothyroidism 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445363 SCV000537059 benign Monogenic diabetes 2019-02-15 criteria provided, single submitter research ACMG criteria: BS2 (Six homozygotes in gnomAD), BP4 (REVEL 0.023 + 10 predictors), BA1 (2.6% in gnomAD African population)=benign
Invitae RCV000962363 SCV001109441 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465644 SCV002754511 benign Transitory neonatal diabetes mellitus criteria provided, single submitter research Potent mutations in GLIS3 predisposes to neonatal diabetes mellitus with an extra pancreatic manifestation of hypothyroidism. It also predisposes to early onset diabetes in adults.However no sufficient evidence is found to ascertain the role of this particular variant rs76342955, yet.
CeGaT Center for Human Genetics Tuebingen RCV000962363 SCV004161808 benign not provided 2023-02-01 criteria provided, single submitter clinical testing GLIS3: BP4, BS1, BS2

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.