ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.6073C>T (p.Arg2025Cys) (rs757086717)

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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 RCV000602475 SCV000712342 uncertain significance not specified 2016-07-05 criteria provided, single submitter clinical testing The p.Arg2025Cys variant in OTOG has not been previously reported in individuals with hearing loss. This variant has been identified in 1/7438 South Asian chrom osomes by the Exome Aggregation Consortium (ExAC, ; dbSNP rs757086717). Although this variant has been seen in the general populat ion, its frequency is not high enough to rule out a pathogenic role. Computation al prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of th e p.Arg2025Cys variant is uncertain.

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