ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.8689C>T (p.Arg2897Cys) (rs185641221)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224504 SCV000281617 uncertain significance not provided 2016-05-12 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825418 SCV000966716 uncertain significance not specified 2020-01-16 criteria provided, single submitter clinical testing The p.Arg2897Cys variant in OTOG has been identified in one individual with hearing loss who had an alternate cause of disease (LMM data). This variant has been identified in 0.02% (5/16900) of Finnish chromosomes by gnomAD (http://gnomad.broadinstitute.org) and has also been reported in ClinVar (Variation ID 235770). Computational prediction tools and conservation analysis suggest that the p.Arg2897Cys variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg2897Cys variant is uncertain. ACMG/AMP Criteria applied: PP3, PM2_Supporting.

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