ClinVar Miner

Submissions for variant NM_021954.4(GJA3):c.563A>G (p.Asn188Ser)

gnomAD frequency: 0.00001  dbSNP: rs140332366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania RCV001837018 SCV005081811 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), PM5(Supporting), PP3. Original variant report: PMID:35008666. The cataract phenotype reported for this variant is: Nuclear and cortical with dense fleck-like anterior/posterior subcapsular and diffuse dust-like pulverulent opacities. Additional phenotype/s reported in these individual/s are: High myopia. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine RCV001837018 SCV001787094 likely pathogenic Cataract 14 multiple types no assertion criteria provided case-control

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