ClinVar Miner

Submissions for variant NM_021954.4(GJA3):c.616T>A (p.Phe206Ile)

dbSNP: rs397514704
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000043650 SCV005081817 uncertain significance 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: PM2(Supporting), PP1, PP3. Original variant report: PMID:22550389. The cataract phenotype reported for this variant is: Nuclear. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320
OMIM RCV000043650 SCV000071672 pathogenic Cataract 14 multiple types 2012-01-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004755757 SCV005360153 likely pathogenic GJA3-related disorder 2024-06-27 no assertion criteria provided clinical testing The GJA3 c.616T>A variant is predicted to result in the amino acid substitution p.Phe206Ile. This variant has been reported to segregate with disease in a three-generation kindred with congenital cataracts (Wang et al 2012. PubMed ID: 22550389). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.

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.