Submissions for variant NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr)

gnomAD frequency: 0.00199  dbSNP: rs148572278

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000355594	SCV000480288	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000664125	SCV000787577	benign	Monogenic diabetes	2018-06-01	criteria provided, single submitter	research	ACMG criteria: BS1 (3 homozygotes in gnomAD), BS2 (38 cases and 46 controls in type2diabetesgenetics.org) [PP3 (6 predictors), BP4 (4 predictors) but Revel score 0.179: conflicting evidence, not using]= benign
Invitae	RCV000891280	SCV001035091	likely benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821123	SCV002072308	likely benign	not specified	2018-06-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000891280	SCV002498013	uncertain significance	not provided	2022-01-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902439	SCV004720767	likely benign	GLIS3-related condition	2022-10-19	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000891280	SCV001800773	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000891280	SCV001919923	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000891280	SCV001928704	likely benign	not provided		no assertion criteria provided	clinical testing