ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) (rs75654767)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
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 Clinical Services Laboratory,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 Clinical Services Laboratory,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.
Invitae RCV000559186 SCV000632379 benign Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, e 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000356568 SCV001138000 uncertain significance Primary open angle glaucoma 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000007515 SCV000027716 pathogenic Glaucoma 1, open angle, e 2002-02-08 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.