ClinVar Miner

Submissions for variant NM_021954.4(GJA3):c.98G>T (p.Arg33Leu)

dbSNP: rs374701362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002071031 SCV002320852 likely pathogenic Cataract 14 multiple types 2022-01-01 criteria provided, single submitter clinical testing
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania RCV002071031 SCV005081778 likely 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: PP1(Strong), PM1, PM2(Supporting), PP3. Original variant report: PMID:17893674. The cataract phenotype reported for this variant is: Granular nuclear. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320

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