ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.330C>G (p.Tyr110Ter) (rs574007567)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics,Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine RCV000593230 SCV000693871 pathogenic Deafness, autosomal recessive 18b 2017-06-09 no assertion criteria provided clinical testing The affected proband was five-year-old male and failed the newborn hearing screening with automated auditory brainstem response. At three months of age, the threshold of auditory brainstem response was 40 dB nHL at both ears. At 5 years of age, he had mild sensorineural hearing loss with decreased threshold in pure-tone audiometry (30 and 41 dB HL at the right and left ear, respectively). The audiogram was relatively flat pattern. In vestibular function test, the proband showed normoreflexia in caloric test as well as rotary chair test (with slow harmonic acceleration).

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