ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1876C>T (p.Arg626Trp) (rs201183725)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000611217 SCV000712372 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing The p.Arg626Trp variant in OTOG has been identified by our laboratory in 2 indiv iduals with hearing loss; however, a variant affecting the other copy of the OTO G gene was not identified in either of them. This variant has been identified in 0.2% (19/8420) of Ashkenazi Jewish chromosomes by the genome Aggregation Databa se (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs201183725). Although it ha s been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summar y, the clinical significance of the p.Arg626Trp variant is uncertain.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477895 SCV000536810 uncertain significance Deafness, autosomal recessive 18b 2015-10-29 no assertion criteria provided research

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