ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.4165C>T (p.Arg1389Cys) (rs764931529)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223481 SCV000272250 uncertain significance not specified 2015-06-29 criteria provided, single submitter clinical testing The p.Arg1389Cys variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.1% (7/5540) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs764931529). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summar y, the clinical significance of the p.Arg1389Cys variant is uncertain.
GeneDx RCV001547802 SCV001767593 uncertain significance not provided 2021-03-31 criteria provided, single submitter clinical testing 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

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