ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.1085C>A (p.Pro362Gln)

dbSNP: rs146131512
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445431 SCV000537060 likely benign Monogenic diabetes 2018-02-27 criteria provided, single submitter research ACMG criteria: PP3 (2 predictors), BP4 (8 predictors), BP5 (found in case with other cause), BS1 (2.11% in ExAC African pop. and 1 hom in ExAC), Note: 9 het, 1 hom in TODAY (1% MAF)=likely benign
Invitae RCV000970199 SCV001117767 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001169303 SCV001331990 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.
GeneDx RCV000970199 SCV002012728 likely benign not provided 2021-03-06 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465653 SCV002754512 uncertain risk allele 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 rs146131512, yet.

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