ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.530C>A (p.Thr177Asn) (rs1396310498)

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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 RCV000604658 SCV000731756 uncertain significance not specified 2017-07-25 criteria provided, single submitter clinical testing The p.Thr177Asn variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 1/11462 of Latino chromosomes by t he Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/). Alth ough this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and co nservation analyses do not provide strong support for or against an impact to th e protein. In summary, the clinical significance of the p.Thr177Asn variant is u ncertain.

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