ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.19C>A (p.Leu7Met)

gnomAD frequency: 0.00083  dbSNP: rs150441169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952233 SCV001098718 likely benign Cataract 1 multiple types 2019-12-31 criteria provided, single submitter clinical testing
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania RCV000952233 SCV005081829 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: BS1(Moderate), PM1(Supporting), PP3. Original variant report: PMID:29464339. No cataract phenotype reported for this proband, additional reported phenotypes in the individual are; Microphthalmia, retinal detachment, heart anomaly, absent left kidney, septum pellucidum abnormality. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320
PreventionGenetics, part of Exact Sciences RCV003943050 SCV004761673 likely benign GJA8-related disorder 2020-06-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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