ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3488C>T (p.Ala1163Val)

dbSNP: rs755175941
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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 RCV000220807 SCV000272235 uncertain significance not specified 2015-04-24 criteria provided, single submitter clinical testing The p.Ala1163Val variant in OTOF has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction tool s and conservation analysis suggest that this variant may impact the protein, th ough this information is not predictive enough to determine pathogenicity. In su mmary, the clinical significance of the p.Ala1163Val variant is uncertain.

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