ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.142G>A (p.Glu48Lys)

dbSNP: rs80358201
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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 RCV000009260 SCV005081857 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: PP1(Moderate), PM1(Supporting), PM2(Supporting), PP3. Original variant report: PMID:10480374. The cataract phenotype reported for this variant is: Pulverulent nuclear and zonular. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320
OMIM RCV000009260 SCV000029478 pathogenic Cataract 1 multiple types 1999-07-01 no assertion criteria provided literature only

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