ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) (rs199613764)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725146 SCV000334448 uncertain significance not provided 2015-09-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213753 SCV000270638 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing p.Val950Ile in exon 23 of OTOF: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, over 10 mammals have an isoleucine (Ile) at this position despite high near by amino acid conservation. In addition, computational prediction tools do not s uggest a high likelihood of impact to the protein. This variant has been identi fied in 19/62470 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199613764).

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