ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.4544G>A (p.Arg1515Gln)

gnomAD frequency: 0.00002  dbSNP: rs201232946
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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 RCV001375303 SCV001571925 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting
GeneDx RCV003325571 SCV004031797 uncertain significance not provided 2024-08-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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