ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.974C>T (p.Pro325Leu) (rs767555421)

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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 RCV000214761 SCV000272271 uncertain significance not specified 2016-04-07 criteria provided, single submitter clinical testing The p.Pro325Leu variant in OTOG has not been previously reported in individuals with hearing loss. This variant has been identified in 3/7664 South Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs767555421). Although this variant has been seen in the general populati on, its frequency is not high enough to rule out a pathogenic role. Computationa l prediction tools and conservation analyses suggest that the p.Pro325Leu varian t may not impact the protein, though this information is not predictive enough t o rule out pathogenicity. In summary, the clinical significance of the p.Pro325L eu variant is uncertain.

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