ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1024G>C (p.Gly342Arg)

dbSNP: rs1572444852
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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 RCV000825414 SCV000966712 uncertain significance not specified 2018-08-16 criteria provided, single submitter clinical testing The p.Gly342Arg variant in OTOF has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analysis do not provide strong support for or ag ainst an impact to the protein. In summary, the clinical significance of the p.G ly342Arg variant is uncertain. ACMG/AMP Criteria applied: PM2.

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