ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5407_5409GAG[1] (p.Glu1804del) (rs397515607)

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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 RCV000211735 SCV000206326 likely pathogenic Rare genetic deafness 2014-07-03 criteria provided, single submitter clinical testing The Glu1804del variant in OTOF has been reported in 3 siblings with temperature- sensitive auditory neuropathy (Marlin 2010). All three affected siblings were ho mozygous and their unaffected parents were heterozygous for this variant. This v ariant has also been identified by our laboratory in trans with another pathogen ic variant in OTOF in an individual with auditory neuropathy. It has not been id entified in large population studies. This variant causes an in-frame deletion o f a glutamate (Glu) at position 1804, which is highly conserved in mammals and e volutionary distant species, suggesting that a change at this position may not b e tolerated, though this information is not predictive enough to determine patho genicity. In summary, although additional studies are required to fully establi sh its clinical significance, this variant is likely pathogenic.
GeneReviews RCV000056050 SCV000087110 association Deafness, autosomal recessive 9 2015-07-30 no assertion criteria provided literature only

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