ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.560A>G (p.Glu187Gly)

dbSNP: rs1451982228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766458 SCV002000173 uncertain significance not provided 2020-11-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003420197 SCV004109875 uncertain significance GJB2-related condition 2022-11-22 criteria provided, single submitter clinical testing The GJB2 c.560A>G variant is predicted to result in the amino acid substitution p.Glu187Gly. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678890 SCV000805083 uncertain significance Hearing loss 2012-01-04 no assertion criteria provided clinical testing

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