ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.175C>G (p.Pro59Ala)

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Total submissions: 1
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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 RCV004593645 SCV005081862 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: PP1(Moderate), PS4(Supporting), PM1(Supporting), PM2(Supporting), PP3. Original variant report: PMID:27216975;29461512. The cataract phenotype reported for this variant is: Nuclear. Additional phenotype/s reported in these individual/s are: Nystagmus and amblyopia. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320

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