ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1829G>A (p.Arg610His) (rs1032491736)

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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 RCV000612114 SCV000731448 uncertain significance not specified 2017-02-16 criteria provided, single submitter clinical testing The p.Arg610His variant in OTOG has not been previously reported in individuals with hearing loss. This variant has been identified in 3/67514 European chromos omes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.or g). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Arg610His vari ant is uncertain.

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