ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.8381C>T (p.Thr2794Met) (rs188322721)

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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 RCV000219443 SCV000272269 uncertain significance not specified 2015-04-20 criteria provided, single submitter clinical testing The p.Thr2794Met variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.21% (1/484) East Asian chromoso mes and in 1/7338 South Asian chromosomes by the Exome Aggregation Consortium (h ttp://exac.broadinstitute.org; dbSNP rs188322721). Although this variant has be en seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses do n ot provide strong support for or against an impact to the protein. In summary, a dditional information is needed to fully assess the clinical significance of thi s variant.

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