ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2287G>T (p.Val763Phe)

dbSNP: rs138545671
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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, Mass General Brigham Personalized Medicine RCV000217325 SCV000272243 uncertain significance not specified 2016-02-28 criteria provided, single submitter clinical testing The p.Val73Phe variant in OTOF has not been previously reported in individuals w ith hearing loss. This variant has been identified in 1/63784 European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs138545671), however its frequency is not high enough to rule out a pathoge nic role. Computational prediction tools and conservation analyses suggest that the p.Val73Phe variant may impact the protein, though this information is not pr edictive enough to determine pathogenicity. In summary, the clinical significanc e of the p.Val73Phe variant is uncertain.

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