Submissions for variant NM_032575.3(GLIS2):c.1476G>A (p.Thr492=)

gnomAD frequency: 0.00608  dbSNP: rs140403969

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094303	SCV000396946	likely benign	Nephronophthisis 7	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000276541	SCV000562338	benign	Nephronophthisis	2025-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001706510	SCV001832673	benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001706510	SCV005217385	likely benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV001706510	SCV005434416	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	ENSG00000262712: BS1, BS2; GLIS2: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003969901	SCV004791891	benign	GLIS2-related disorder	2019-05-22	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).