ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.284C>G (p.Ala95Gly) (rs941077657)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826001 SCV000967489 uncertain significance not specified 2019-02-06 criteria provided, single submitter clinical testing The p.Ala107Gly variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.02% (4/15500) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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