ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.4048C>T (p.Arg1350Trp) (rs61734125)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000443155 SCV000510752 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218219 SCV000270662 likely benign not specified 2016-02-23 criteria provided, single submitter clinical testing p.Arg1350Trp in exon 32 of OTOG: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals, sug gesting that variants at this position are tolerated. Of note, 2 mammals (marmos et and Bactrian camel) have a Tryptophan (Trp) at this position. In addition, c omputational prediction tools do not suggest a high likelihood of impact to the protein. The variant has been reported in 1/920 African chromosomes by the Exome Aggregate Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs61734125).

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