ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.178G>A (p.Gly60Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003319681 SCV004023599 pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33240976, 35531093)
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania RCV004593262 SCV005081866 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), PM1(Supporting), PM2(Supporting), PP3. Original variant report: PMID:33240976. The cataract phenotype reported for this variant is: Y-shaped nuclear. Additional phenotype/s reported in these individual/s are: Strabismus, amblyopia. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320

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