ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2975_2976AG[1] (p.Gln994fs) (rs397515597)

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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, Partners HealthCare Personalized Medicine RCV000211839 SCV000206348 pathogenic Rare genetic deafness 2014-06-10 criteria provided, single submitter clinical testing The Gln994fs variant in OTOF has been reported in one Chinese individual with te mperature sensitive non-syndromic auditory neuropathy (Wang 2010) who was compou nd heterozygous with a second OTOF variant. The Gln994fs variant has not been id entified in large population studies. This variant is predicted to cause a frame shift, which alters the protein?s amino acid sequence beginning at position 994 and leads to a premature termination codon 7 amino acids downstream. This altera tion is then predicted to lead to a truncated or absent protein. In summary, thi s variant meets our criteria to be classified as pathogenic (www.partners.org/pe rsonalizedmedicine/lmm).
GeneReviews RCV000156627 SCV000087094 association Deafness, autosomal recessive 9 2015-07-30 no assertion criteria provided literature only

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