ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.53C>T (p.Thr18Ile)

gnomAD frequency: 0.00007  dbSNP: rs755025684
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766959 SCV001989936 uncertain significance not provided 2019-02-26 criteria provided, single submitter clinical testing Observed in the heterozygous state in two patients with hearing loss; however, no other specific information on the patients was provided (Yang et al., 2010); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 20593197)

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