ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp)

gnomAD frequency: 0.00001  dbSNP: rs1172714485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375269 SCV001571747 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PS1_Strong, PM2_Moderate, PM5_Moderate, PP3_Supporting
GeneDx RCV004720881 SCV005328154 likely pathogenic not provided 2023-10-24 criteria provided, single submitter clinical testing Observed with a second OTOF variant on the opposite allele (in trans) or phase unknown in multiple patients with hearing loss in published literature and referred for genetic testing at GeneDx (PMID: 31581539, 34753855); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35884828, 31581539, 34753855)

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