Submissions for variant NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala)

gnomAD frequency: 0.01104  dbSNP: rs35154632

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000117145	SCV000306232	benign	not specified		criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000664126	SCV000787578	benign	Monogenic diabetes	2019-02-01	criteria provided, single submitter	research	ACMG criteria: BA1 (1.63% in gnomAD African, 0.7% overall), BS2 (17 homozygotes in gnomAD)=benign (REVEL 0.206 +PP3/7 predictors + BP4/3 predictors: conflicting evidence, not using)
Invitae	RCV000949534	SCV001095792	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001169306	SCV001331993	benign	Neonatal diabetes mellitus with congenital hypothyroidism	2017-05-01	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000949534	SCV001756858	likely benign	not provided	2020-01-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32425884, 31287502)
Fulgent Genetics, Fulgent Genetics	RCV001169306	SCV002798844	benign	Neonatal diabetes mellitus with congenital hypothyroidism	2021-07-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000949534	SCV004161815	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	GLIS3: BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000117145	SCV000151308	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.