ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.251T>C (p.Val84Ala)

gnomAD frequency: 0.00001  dbSNP: rs727505096
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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, Mass General Brigham Personalized Medicine RCV000156540 SCV000206259 uncertain significance not specified 2014-06-05 criteria provided, single submitter clinical testing The Val84Ala variant in OTOF has not been previously reported in individuals wit h hearing loss and was absent from large population studies. Computational predi ction tools and conservation analyses suggest that the Val84Ala variant may impa ct the protein, though this information is not predictive enough to determine pa thogenicity. In summary, the clinical significance of the Val84Ala variant is un certain.
Invitae RCV002515025 SCV002957806 likely benign not provided 2023-12-29 criteria provided, single submitter clinical testing

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