ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.227G>A (p.Arg76His)

dbSNP: rs2149015516
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Total submissions: 3
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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 RCV004591569 SCV005081735 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(Strong), PS4(Supporting), PM1(Supporting), PM2(Supporting), PP3. Original variant report: PMID:27216975;30928190. The cataract phenotype reported for this variant is: Nuclear, and Zonular/lamellar with fine punctate. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795785 SCV002036655 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001795785 SCV002037504 pathogenic not provided no assertion criteria provided clinical testing

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