Submissions for variant NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)

gnomAD frequency: 0.00101  dbSNP: rs75654767

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000356568	SCV000267428	uncertain significance	Primary open angle glaucoma	2016-03-18	criteria provided, single submitter	reference population
Illumina Laboratory Services, Illumina	RCV000301689	SCV000361437	likely benign	Amyotrophic lateral sclerosis type 12	2017-04-27	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000356568	SCV000361438	likely benign	Primary open angle glaucoma	2017-04-27	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000559186	SCV000632379	benign	Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000356568	SCV001138000	benign	Primary open angle glaucoma	2023-08-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001289042	SCV001476583	benign	not specified	2019-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001610287	SCV001836546	benign	not provided	2020-12-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31198474, 31182772, 17293779, 26566915, 11834836, 19172505, 20981092, 25333069, 15226658, 12939304, 22995991, 19672125)
Molecular Genetics, Royal Melbourne Hospital	RCV000301689	SCV004812886	benign	Amyotrophic lateral sclerosis type 12	2023-11-05	criteria provided, single submitter	clinical testing
OMIM	RCV000007515	SCV000027716	pathogenic	Glaucoma 1, open angle, E	2002-02-08	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004532306	SCV004747887	benign	OPTN-related disorder	2019-07-10	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).