ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.262C>T (p.Arg88Trp)

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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, Partners HealthCare Personalized Medicine RCV001195624 SCV001366023 uncertain significance not specified 2019-10-08 criteria provided, single submitter clinical testing The p.Arg100Trp variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.004% (1/22534) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.

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