ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.8326C>T (p.Arg2776Cys)

gnomAD frequency: 0.00001  dbSNP: rs948010343
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825420 SCV000966718 uncertain significance not specified 2018-05-21 criteria provided, single submitter clinical testing The p.Arg2788Cys variant in OTOG has not been previously reported in individuals with hearing loss. This variant has been identified in 1/23796 of Latino chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs948010343). Computational prediction tools and conservation analysis suggest that the p.Arg2788Cys variant may impact the protein, though this infor mation is not predictive enough to determine pathogenicity. In summary, the clin ical significance of the p.Arg2788Cys variant is uncertain. ACMG/AMP Criteria ap plied: PM2, PP3.

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