Submissions for variant NM_001042413.2(GLIS3):c.171C>T (p.Asn57=)

gnomAD frequency: 0.00947  dbSNP: rs117802495

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252043	SCV000306231	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334699	SCV000480302	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	RCV001589246	SCV001826603	likely benign	not provided	2019-09-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000252043	SCV002072310	benign	not specified	2021-10-01	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002465605	SCV002754510	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 rs117802495, yet.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001589246	SCV003252093	benign	not provided	2023-05-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001589246	SCV004161819	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	GLIS3: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001589246	SCV005225322	likely benign	not provided		criteria provided, single submitter	not provided