ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.322A>G (p.Ile108Val)

gnomAD frequency: 0.00002  dbSNP: rs727505189
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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 RCV000156679 SCV000206400 uncertain significance not specified 2014-09-04 criteria provided, single submitter clinical testing The Ile108Val variant in OTOF has not been previously reported in individuals wi th hearing loss and was absent from large population studies. Computational pred iction tools and conservation analysis do not provide strong support for or agai nst an impact to the protein. In summary, the clinical significance of the Ile10 8Val variant is uncertain.
Invitae RCV003546484 SCV004271130 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing

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