ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1582C>T (p.Arg528Cys) (rs755375116)

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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 RCV000616403 SCV000713831 uncertain significance not specified 2018-01-09 criteria provided, single submitter clinical testing The p.Arg528Cys variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 12/22594 South Asian chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbS NP rs755375116). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational pr ediction tools and conservation analyses suggest that this variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the p.Arg528Cys variant is unce rtain. ACMG/AMP Criteria applied: PP3.

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