ClinVar Miner

Submissions for variant NM_021954.4(GJA3):c.1137dup (p.Ser380fs)

dbSNP: rs1593332981
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania RCV000018500 SCV005081822 pathogenic Cataract 14 multiple types 2023-01-21 criteria provided, single submitter curation Variant identified and curated during a GJA3 specific review of the literature in relation to pediatric or congenital cataract. ACMG-AMP criteria applied: PVS1(Strong), PS3, PP1(Moderate), PM2(Supporting). Original variant report: PMID:10205266. The cataract phenotype reported for this variant is: Punctate opacities throughout lens (zonular pulverulent). Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320
OMIM RCV000018500 SCV000038782 pathogenic Cataract 14 multiple types 2005-12-09 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.