ClinVar Miner

Submissions for variant NM_021954.4(GJA3):c.5G>A (p.Gly2Asp)

dbSNP: rs397514703
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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 RCV000043648 SCV005081787 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:21681855. The cataract phenotype/s reported for this variant are: Nuclear pulverulent and posterior polar. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160321
OMIM RCV000043648 SCV000071670 pathogenic Cataract 14 multiple types 2011-12-01 no assertion criteria provided literature only

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