ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.73T>C (p.Trp25Arg)

dbSNP: rs1114167309
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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 RCV004591100 SCV005081838 uncertain significance 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: PM1(Supporting), PM2(Supporting), PP1, PP3. Original variant report: PMID:28839118. 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
Department of Ophthalmology, Flinders University RCV000490786 SCV000297748 pathogenic Developmental cataract 2016-07-29 no assertion criteria provided clinical testing

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