Submissions for variant NM_001042413.2(GLIS3):c.2089G>A (p.Val697Met)

gnomAD frequency: 0.00229  dbSNP: rs148816140

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000905401	SCV001049984	likely benign	not provided	2024-10-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001169173	SCV001331838	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.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV001174469	SCV001337608	likely benign	Monogenic diabetes	2019-02-01	criteria provided, single submitter	research	ACMG criteria: BP4 (REVEL 0.039 + 10 predictors), BS1 (0.8% MAF in gnomAD African) = likely benign
Ambry Genetics	RCV002542082	SCV003655034	uncertain significance	Inborn genetic diseases	2021-08-10	criteria provided, single submitter	clinical testing	The c.1624G>A (p.V542M) alteration is located in exon 6 (coding exon 5) of the GLIS3 gene. This alteration results from a G to A substitution at nucleotide position 1624, causing the valine (V) at amino acid position 542 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001169173	SCV003928195	uncertain significance	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 rs148816140, yet.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000905401	SCV001798152	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000905401	SCV001918820	likely benign	not provided		no assertion criteria provided	clinical testing
Genetic Services Laboratory, University of Chicago	RCV003151204	SCV003839562	likely benign	not specified	2022-11-21	no assertion criteria provided	clinical testing