Submissions for variant NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly)

gnomAD frequency: 0.00178  dbSNP: rs148168366

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000445451	SCV000537063	uncertain significance	Monogenic diabetes	2017-12-01	criteria provided, single submitter	research	ACMG criteria: PP3 (2 predictors), BP4 (8 predictors)= VUS
Eurofins Ntd Llc (ga)	RCV000594574	SCV000703626	uncertain significance	not provided	2016-11-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000594574	SCV001024609	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001166434	SCV001328811	likely benign	Neonatal diabetes mellitus with congenital hypothyroidism	2018-01-12	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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001166434	SCV003928198	uncertain risk allele	Neonatal diabetes mellitus with congenital hypothyroidism		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 rs148168366, yet.
PreventionGenetics, part of Exact Sciences	RCV003960014	SCV004771916	likely benign	GLIS3-related disorder	2021-03-01	no assertion criteria provided	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).