ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.136C>T (p.Arg46Ter) (rs74315337)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000944958 SCV001090941 benign not provided 2018-09-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001100518 SCV001257042 likely benign 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000991157 SCV001257043 likely benign Glaucoma 1, open angle, A 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.
OMIM RCV000008418 SCV000028626 pathogenic Glaucoma 1, open angle, a, autosomal recessive 1999-06-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000991157 SCV001142313 pathogenic Glaucoma 1, open angle, A 2020-01-06 no assertion criteria provided curation NM_000261.1:c.136C>T in the MYOC gene has an allele frequency of 0.009 in East Asian subpopulation in the gnomAD database. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.136C>T (Arg46Stop) mutation has been detected in three Taiwanese patients suffering from juvenile-onset open-angle glaucoma and one Korean patient with primary open-Angle glaucoma (PMID: 17893664; 10330365). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PVS1, PS4_Moderate, PP4.

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.