ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) (rs80356600)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219111 SCV000271428 pathogenic Rare genetic deafness 2015-02-26 criteria provided, single submitter clinical testing The p.Tyr1497X variant in OTOF has been reported in 5 Lebanese individuals with hearing loss and segregated with disease in 17 affected relatives from 4 familie s (Yasunaga 1999, Rodriguez-Ballesteros 2008). All individuals were homozygous a nd 1 individual was reported to have auditory neuropathy. The p.Tyr1497X variant has not been identified in large population studies. This nonsense variant lead s to a premature termination codon at position 1497, which is predicted to lead to a truncated or absent protein. In summary, the p.Tyr1497X variant meets our c riteria to be classified as pathogenic for hearing loss in an autosomal recessiv e manner (http://www.partners.org/personalizedmedicine/LMM) based upon the predi cted impact on the protein, segregation studies, and low frequency in the genera l population.
OMIM RCV000006507 SCV000026690 pathogenic Deafness, autosomal recessive 9 1999-04-01 no assertion criteria provided literature only
GeneReviews RCV000006507 SCV000041717 pathologic Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Pathogenic.

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