ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.6386C>T (p.Ala2129Val) (rs535700451)

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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 RCV000615710 SCV000711952 uncertain significance not specified 2016-04-12 criteria provided, single submitter clinical testing The p.Ala2129Val variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 1/206 of Chinese chromosomes by t he 1000 Genomes Project (dbSNP rs535700451). Although this variant has been seen in the general population, its frequency is not high enough to rule out a patho genic role. Computational prediction tools and conservation analysis suggest tha t the p.Ala2129Val variant may impact the protein, though this information is no t predictive enough to determine pathogenicity. In summary, the clinical signifi cance of the p.Ala2129Val variant is uncertain.

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