ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.89dup (p.Ile31fs)

dbSNP: rs864309684
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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 RCV004589870 SCV005081839 likely pathogenic Cataract 1 multiple types 2023-01-21 criteria provided, single submitter curation Variant identified and curated during a GJA8 specific review of the literature in relation to pediatric or congenital cataract. ACMG-AMP criteria applied: PVS1(Strong), PM1(Supporting), PM2(Supporting), PP3. Original variant report: PMID:26694549. Additional phenotype/s reported in these individual/s are: secondary glaucoma. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320
Eye Genetics Research Group, Children's Medical Research Institute RCV000203335 SCV000256010 pathogenic Developmental cataract 2015-01-09 no assertion criteria provided research

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