ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys)

gnomAD frequency: 0.00016  dbSNP: rs150070091
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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 RCV000611936 SCV000711178 uncertain significance not specified 2016-10-18 criteria provided, single submitter clinical testing The p.Arg864Cys variant in OTOF has not been previously reported in individuals with hearing loss, but has been identified in 6/9980 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1500 70091). Computational prediction tools and conservation analysis suggest that th is variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. In summary, the clinical significance of the p.A rg864Cys variant is uncertain.
Invitae RCV003767424 SCV004616726 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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