ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.2947G>A (p.Ala983Thr) (rs897016393)

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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 RCV000613105 SCV000713739 uncertain significance not specified 2017-12-07 criteria provided, single submitter clinical testing The p.Ala983Thr variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 2/23850 of Latino chromosomes and 1/52108 European chromosomes by the Genome Aggregation Database (gnomAD, http:// gnomad.broadinstitute.org; dbSNP rs897016393). Although this variant has been se en in the general population, its frequency is not high enough to rule out a pat hogenic role. Computational prediction tools and conservation analysis do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Ala983Thr variant is uncertain. ACMG/AMP criteria a pplied: PM2

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